ClinVar Miner

Submissions for variant NM_007171.3(POMT1):c.1764C>T (p.Ser588=) (rs150814269)

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Total submissions: 6
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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 uncertain significance Limb-Girdle Muscular Dystrophy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000153050 SCV000523065 likely benign not specified 2018-03-01 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
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 RCV000539640 SCV000649884 benign Limb-girdle muscular dystrophy-dystroglycanopathy, type C1; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1; Walker-Warburg congenital muscular dystrophy 2017-12-15 criteria provided, single submitter clinical testing

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