ClinVar Miner

Submissions for variant NM_207361.6(FREM2):c.3209T>C (p.Phe1070Ser)

gnomAD frequency: 0.43515  dbSNP: rs2496425
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173599 SCV000224723 benign not specified 2014-12-09 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001094147 SCV000384172 benign Fraser syndrome 2 2018-03-06 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.
Mendelics RCV000380412 SCV001139296 benign Fraser syndrome 1 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV001618326 SCV001847622 benign not provided 2018-11-11 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 17000706)
Genome-Nilou Lab RCV001701776 SCV001933636 benign Isolated cryptophthalmia 2021-08-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001094147 SCV001933637 benign Fraser syndrome 2 2021-08-10 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000173599 SCV002050747 likely benign not specified 2021-12-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001618326 SCV002403112 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001618326 SCV005215568 likely benign not provided criteria provided, single submitter not provided

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