ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.2004-20C>T

gnomAD frequency: 0.00061  dbSNP: rs372767898
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000245698 SCV000311751 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000245698 SCV000726280 likely benign not specified 2018-01-09 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002058224 SCV002483197 benign Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy 2024-01-27 criteria provided, single submitter clinical testing

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