ClinVar Miner

Submissions for variant NM_025074.7(FRAS1):c.1947T>C (p.His649=)

gnomAD frequency: 0.79008  dbSNP: rs345514
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175235 SCV000226681 benign not specified 2015-02-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000175235 SCV000314485 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000407507 SCV000451172 benign Fraser syndrome 1 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.
GeneDx RCV001610486 SCV001837931 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000407507 SCV001933595 benign Fraser syndrome 1 2021-08-10 criteria provided, single submitter clinical testing
Invitae RCV001610486 SCV002410193 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000407507 SCV000734343 benign Fraser syndrome 1 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000175235 SCV001927498 benign not specified no assertion criteria provided clinical testing

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