ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.939C>T (p.Ser313=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002443399 SCV002682443 likely benign Cardiovascular phenotype 2022-09-08 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003509745 SCV004301806 likely benign Alagille syndrome due to a JAG1 point mutation 2023-09-23 criteria provided, single submitter clinical testing

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