ClinVar Miner

Submissions for variant NM_207361.6(FREM2):c.6977C>T (p.Thr2326Ile)

gnomAD frequency: 0.73365  dbSNP: rs9548509
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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 RCV000241670 SCV000317268 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001094086 SCV000384226 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 RCV000369162 SCV000743535 benign Fraser syndrome 1 2014-10-10 criteria provided, single submitter clinical testing
Mendelics RCV000369162 SCV001139297 benign Fraser syndrome 1 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV001610764 SCV001839238 benign not provided 2018-07-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001701832 SCV001933640 benign Isolated cryptophthalmia 2021-08-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001094086 SCV001933642 benign Fraser syndrome 2 2021-08-10 criteria provided, single submitter clinical testing
Invitae RCV001610764 SCV002480728 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000369162 SCV000733349 benign Fraser syndrome 1 no assertion criteria provided clinical testing

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