ClinVar Miner

Submissions for variant NM_024513.4(FYCO1):c.1985C>T (p.Ser662Phe)

gnomAD frequency: 0.00127  dbSNP: rs150785981
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000870596 SCV000444679 likely benign Cataract 18 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae RCV000870596 SCV001012105 likely benign Cataract 18 2023-12-04 criteria provided, single submitter clinical testing
GeneDx RCV001573107 SCV001891352 benign not provided 2020-08-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003932396 SCV004754664 benign FYCO1-related disorder 2019-07-01 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573107 SCV001798479 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727697 SCV001969616 benign not specified no assertion criteria provided clinical testing

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