ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.1023C>T (p.Leu341=)

dbSNP: rs1297627471
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001138648 SCV001298715 uncertain significance 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV002559337 SCV003477403 likely benign Alagille syndrome due to a JAG1 point mutation 2022-02-02 criteria provided, single submitter clinical testing

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