Classification rationale
No rationale recorded.
Applied criteria
Met
Not met
Not assessed
N/A
Very strong
Strong
Moderate
Supporting
Pathogenic evidence
PVS
PVS1
PS
PS1
PS2
PS3
PS4
PM
PM1
PM2
PM3
PM4
PM5
PM6
PP
PP1
PP2
PP3
PP4
PP5
Benign evidence
BA
BA1
BS
BS1
BS2
BS3
BS4
BP
BP1
BP2
BP3
BP4
BP5
BP6
BP7
PVS1
—
—
Rationale
Select a criterion to inspect its explanation.
Evidence used
- —
Gaps remaining
- —
Rule
—
Publications
—
Research and evidence
v2.1
v4.1
01
Population
gnomAD v2.1Absent from gnomAD v2.1.
gnomAD v4.1Absent from gnomAD v4.1.
gnomAD CanadaAbsent from gnomAD-Canada v1.0.
02
03
04
05
06