ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.294C>T (p.Ser98=)

dbSNP: rs79338570
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000252839 SCV000303025 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000331512 SCV000432951 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000463388 SCV000557602 benign Alagille syndrome due to a JAG1 point mutation 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619252 SCV000736308 benign Cardiovascular phenotype 2016-06-29 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Eurofins Ntd Llc (ga) RCV000252839 SCV000855950 benign not specified 2017-07-25 criteria provided, single submitter clinical testing
GeneDx RCV001610569 SCV001834913 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000252839 SCV001925856 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000252839 SCV001970207 benign not specified no assertion criteria provided clinical testing

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