ClinVar Miner

Submissions for variant NM_207361.6(FREM2):c.2250C>T (p.Asp750=)

gnomAD frequency: 0.07615  dbSNP: rs41292755
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173611 SCV000224735 benign not specified 2014-10-21 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV000173611 SCV000317265 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001094163 SCV000384161 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 RCV000405344 SCV000743534 benign Fraser syndrome 1 2014-10-10 criteria provided, single submitter clinical testing
Invitae RCV002054053 SCV002486654 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000405344 SCV000733348 benign Fraser syndrome 1 no assertion criteria provided clinical testing

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