ClinVar Miner

Submissions for variant NM_012203.2(GRHPR):c.16C>T (p.Leu6Phe)

gnomAD frequency: 0.00088  dbSNP: rs147185003
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000282740 SCV000480129 benign Primary hyperoxaluria, type II 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000912666 SCV001057781 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000282740 SCV001737258 benign Primary hyperoxaluria, type II 2021-05-18 criteria provided, single submitter clinical testing
GeneDx RCV000912666 SCV001794765 likely benign not provided 2020-09-17 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000912666 SCV005226423 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV000282740 SCV001458618 benign Primary hyperoxaluria, type II 2019-10-28 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003912578 SCV004735822 benign GRHPR-related disorder 2019-12-31 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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