ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2304C>T (p.Cys768=) (rs755427292)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000731651 SCV000859496 uncertain significance not provided 2018-01-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001142961 SCV001303455 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 RCV001484575 SCV001688994 likely benign Alagille syndrome 1 2020-04-18 criteria provided, single submitter clinical testing

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