ClinVar Miner

Submissions for variant NM_006279.5(ST3GAL3):c.945C>T (p.Asp315=)

gnomAD frequency: 0.00005  dbSNP: rs748922857
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194198 SCV000249047 uncertain significance not specified 2015-07-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000636456 SCV000757895 likely benign Early infantile epileptic encephalopathy with suppression bursts 2024-10-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002444784 SCV002683033 likely benign Inborn genetic diseases 2020-03-16 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.
Revvity Omics, Revvity RCV003137773 SCV003825839 uncertain significance not provided 2021-02-04 criteria provided, single submitter clinical testing

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