ClinVar Miner

Submissions for variant NM_000159.4(GCDH):c.1092C>T (p.Pro364=)

gnomAD frequency: 0.00005  dbSNP: rs146363703
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000936040 SCV001081800 likely benign Glutaric aciduria, type 1 2024-01-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002445067 SCV002732453 likely benign Inborn genetic diseases 2021-01-23 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Natera, Inc. RCV000936040 SCV001460070 uncertain significance Glutaric aciduria, type 1 2020-01-24 no assertion criteria provided clinical testing

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