ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.963C>T (p.Ala321=)

gnomAD frequency: 0.00004  dbSNP: rs538938551
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000898360 SCV001042565 likely benign not provided 2023-10-22 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001644860 SCV001143411 benign not specified 2020-11-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000898360 SCV004140321 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing NOTCH3: BP4, BP7

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