ClinVar Miner

Submissions for variant NM_000065.5(C6):c.186A>C (p.Glu62Asp)

gnomAD frequency: 0.00040  dbSNP: rs200359838
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001810620 SCV001474466 uncertain significance not provided 2019-09-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001810620 SCV002329577 likely benign not provided 2024-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002537962 SCV003577296 likely benign Inborn genetic diseases 2021-12-15 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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