ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.338G>A (p.Arg113Gln)

gnomAD frequency: 0.00064  dbSNP: rs143385744
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000316572 SCV000411016 likely benign Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 2017-04-28 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV000873175 SCV001015121 benign not provided 2023-05-30 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV001289340 SCV001477075 benign not specified 2020-03-21 criteria provided, single submitter clinical testing

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