ClinVar Miner

Submissions for variant NM_025074.7(FRAS1):c.3406G>A (p.Glu1136Lys)

gnomAD frequency: 0.24213  dbSNP: rs12512164
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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) RCV000176766 SCV000228478 benign not specified 2014-11-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000176766 SCV000314489 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000266510 SCV000451195 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.
Genome-Nilou Lab RCV000266510 SCV001933600 benign Fraser syndrome 1 2021-08-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002054081 SCV002419649 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002054081 SCV005300269 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000266510 SCV000734350 benign Fraser syndrome 1 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000176766 SCV001928838 benign not specified no assertion criteria provided clinical testing

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