ClinVar Miner

Submissions for variant NM_012203.2(GRHPR):c.509G>A (p.Arg170Gln)

gnomAD frequency: 0.01219  dbSNP: rs12002324
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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 RCV000961928 SCV001108984 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001169809 SCV001332585 likely benign Primary hyperoxaluria, type II 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Breakthrough Genomics, Breakthrough Genomics RCV000961928 SCV005226426 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001169809 SCV001458624 benign Primary hyperoxaluria, type II 2019-11-22 no assertion criteria provided clinical testing

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