ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.6569C>T (p.Ala2190Val)

gnomAD frequency: 0.00009  dbSNP: rs528151296
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000990174 SCV001141019 benign Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002549741 SCV003509465 likely benign not provided 2024-01-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002549741 SCV005330380 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing NOTCH3: BP4, BS2

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