ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.133G>T (p.Val45Leu) (rs183974372)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000303889 SCV000432959 likely benign Isolated Nonsyndromic Congenital Heart Disease 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). 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000597398 SCV000709460 benign not specified 2017-06-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618886 SCV000736242 likely benign Cardiovascular phenotype 2016-06-24 criteria provided, single submitter clinical testing Subpopulation frequency in support of benign classification;In silico models in agreement (benign)
Invitae RCV000645022 SCV000766761 benign Alagille syndrome 1 2019-12-31 criteria provided, single submitter clinical testing

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