ClinVar Miner

Submissions for variant NM_207361.6(FREM2):c.576G>A (p.Glu192=)

gnomAD frequency: 0.99992  dbSNP: rs1868464
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000250281 SCV000317267 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001094138 SCV000384137 benign Fraser syndrome 2 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 Diagnostics Laboratory, University Medical Center Utrecht RCV000347448 SCV000743533 benign Fraser syndrome 1 2014-10-10 criteria provided, single submitter clinical testing
GeneDx RCV001683149 SCV001903840 benign not provided 2019-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001701927 SCV001933634 benign Isolated cryptophthalmia 2021-08-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001094138 SCV001933635 benign Fraser syndrome 2 2021-08-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001683149 SCV002406255 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001683149 SCV005236684 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000347448 SCV000733347 benign Fraser syndrome 1 no assertion criteria provided clinical testing

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