ClinVar Miner

Submissions for variant NM_001366722.1(GRIP1):c.2606G>A (p.Arg869Gln)

gnomAD frequency: 0.00595  dbSNP: rs145115262
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175478 SCV000226960 likely benign not specified 2014-10-20 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000324499 SCV000380942 likely benign Fraser syndrome 3 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000948400 SCV001094605 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000948400 SCV004135465 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing GRIP1: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000948400 SCV005216094 likely benign not provided criteria provided, single submitter not provided
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001252267 SCV001428019 likely benign Intellectual disability 2019-01-01 no assertion criteria provided clinical testing

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