ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2451C>T (p.Cys817=)

gnomAD frequency: 0.00001  dbSNP: rs747532570
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000595685 SCV000705172 uncertain significance not provided 2016-12-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003509576 SCV004246761 likely benign Alagille syndrome due to a JAG1 point mutation 2023-08-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV004024771 SCV005032983 likely benign Cardiovascular phenotype 2023-12-30 criteria provided, single submitter clinical testing This alteration is classified as likely 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.

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