ClinVar Miner

Submissions for variant NM_012203.2(GRHPR):c.734+9G>A

gnomAD frequency: 0.04769  dbSNP: rs56401536
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000186432 SCV000480140 benign Primary hyperoxaluria, type II 2018-01-13 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.
Invitae RCV001516443 SCV001724723 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001516443 SCV001907971 benign not provided 2020-04-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000186432 SCV002811219 likely benign Primary hyperoxaluria, type II 2021-07-21 criteria provided, single submitter clinical testing
Clinical Biochemistry Laboratory, Health Services Laboratory RCV000186432 SCV000239784 uncertain significance Primary hyperoxaluria, type II 2014-11-27 no assertion criteria provided research
Natera, Inc. RCV000186432 SCV002075687 benign Primary hyperoxaluria, type II 2019-12-02 no assertion criteria provided clinical testing

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