ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.120C>G (p.Ala40=)

gnomAD frequency: 0.00006  dbSNP: rs146904189
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248728 SCV000304241 likely benign not specified criteria provided, single submitter clinical testing
Athena Diagnostics RCV000248728 SCV000614213 benign not specified 2024-05-17 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000248728 SCV001159884 likely benign not specified 2019-03-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002055041 SCV002370776 likely benign not provided 2024-08-12 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals RCV001787091 SCV002029179 likely benign Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy 2021-06-30 no assertion criteria provided clinical testing

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