ClinVar Miner

Submissions for variant NM_012203.2(GRHPR):c.108G>A (p.Ser36=)

gnomAD frequency: 0.00002  dbSNP: rs377072887
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001469802 SCV001673891 likely benign not provided 2024-02-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002447248 SCV002734659 likely benign Nephrolithiasis/nephrocalcinosis 2021-12-13 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.
Fulgent Genetics, Fulgent Genetics RCV001279918 SCV002799293 likely benign Primary hyperoxaluria, type II 2022-02-10 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279918 SCV001467055 uncertain significance Primary hyperoxaluria, type II 2020-08-14 no assertion criteria provided clinical testing

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