ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.1524G>A (p.Val508=)

gnomAD frequency: 0.00005  dbSNP: rs749980683
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000910543 SCV001055413 likely benign not provided 2022-01-17 criteria provided, single submitter clinical testing
Athena Diagnostics RCV004997488 SCV005621849 likely benign not specified 2024-01-26 criteria provided, single submitter clinical testing

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