ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.2941C>T (p.His981Tyr)

gnomAD frequency: 0.00011  dbSNP: rs143695196
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001288891 SCV001476290 likely benign not provided 2020-08-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001288891 SCV002312933 likely benign not provided 2023-11-07 criteria provided, single submitter clinical testing

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