ClinVar Miner

Submissions for variant NM_006279.5(ST3GAL3):c.900T>C (p.Pro300=)

gnomAD frequency: 0.00009  dbSNP: rs563317319
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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) RCV000592674 SCV000707714 uncertain significance not provided 2017-05-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002317341 SCV000849991 likely benign Inborn genetic diseases 2016-05-14 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 RCV001083714 SCV001003699 likely benign Early infantile epileptic encephalopathy with suppression bursts 2024-12-30 criteria provided, single submitter clinical testing

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