ClinVar Miner

Submissions for variant NM_025074.7(FRAS1):c.2060A>G (p.Asp687Gly)

dbSNP: rs345513
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000252679 SCV000314486 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000312084 SCV000451173 benign Fraser syndrome 1 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.
GeneDx RCV001683115 SCV001904850 benign not provided 2019-02-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000312084 SCV001933597 benign Fraser syndrome 1 2021-08-10 criteria provided, single submitter clinical testing
Invitae RCV001683115 SCV002338285 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000312084 SCV000734344 benign Fraser syndrome 1 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000252679 SCV001927965 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000252679 SCV001953063 benign not specified no assertion criteria provided clinical testing

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