ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.294C>T (p.Ser98=) (rs79338570)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000252839 SCV000303025 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,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.
Invitae RCV000463388 SCV000557602 benign Alagille syndrome 1 2020-12-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619252 SCV000736308 benign Cardiovascular phenotype 2016-06-29 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 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

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