ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.1490C>T (p.Ser497Leu)

gnomAD frequency: 0.00755  dbSNP: rs114207045
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000245975 SCV000304243 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000401640 SCV000411003 likely benign Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Athena Diagnostics RCV000245975 SCV000614226 benign not specified 2017-07-12 criteria provided, single submitter clinical testing
Mendelics RCV000401640 SCV001141027 benign Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 2019-05-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812677 SCV001159404 benign not provided 2023-10-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001812677 SCV002433321 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001812677 SCV002585724 benign not provided 2024-08-01 criteria provided, single submitter clinical testing NOTCH3: BS1, BS2
Fulgent Genetics, Fulgent Genetics RCV002500862 SCV002798021 likely benign Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1; Lateral meningocele syndrome; Myofibromatosis, infantile, 2 2021-10-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001812677 SCV005209601 likely benign not provided criteria provided, single submitter not provided

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