ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.5900T>C (p.Met1967Thr)

gnomAD frequency: 0.00009  dbSNP: rs377589088
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV004997555 SCV001143396 likely benign not specified 2023-12-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000991718 SCV002333811 likely benign not provided 2024-02-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000991718 SCV002822532 uncertain significance not provided 2022-10-01 criteria provided, single submitter clinical testing NOTCH3: PP2

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