ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.1698C>T (p.Ser566=) (rs150814269)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000153050 SCV000202504 benign not specified 2014-01-27 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000153050 SCV000311742 benign not specified 2016-04-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000270796 SCV000477670 likely benign Limb-girdle muscular dystrophy-dystroglycanopathy, type C1 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.
GeneDx RCV000514256 SCV000523065 likely benign not provided 2020-12-16 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514256 SCV000609592 likely benign not provided 2017-04-27 criteria provided, single submitter clinical testing
Invitae RCV001085917 SCV000649884 benign Limb-girdle muscular dystrophy-dystroglycanopathy, type C1; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1; Walker-Warburg congenital muscular dystrophy 2020-12-03 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000514256 SCV001145180 benign not provided 2019-06-24 criteria provided, single submitter clinical testing

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