ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.195C>T (p.Ser65=)

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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 RCV004989419 SCV005477161 likely benign Cardiovascular phenotype 2024-06-27 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 RCV005061531 SCV005703587 likely benign Lethal congenital glycogen storage disease of heart 2024-12-27 criteria provided, single submitter clinical testing

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