ClinVar Miner

Submissions for variant NM_012203.2(GRHPR):c.493+9C>T

gnomAD frequency: 0.00873  dbSNP: rs41303225
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000245251 SCV000311877 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000295367 SCV000480135 likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae RCV000952939 SCV001099478 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV000295367 SCV001462563 benign Primary hyperoxaluria, type II 2020-09-16 no assertion criteria provided clinical testing

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