ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.1082+16G>A (rs59515295)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000081476 SCV000113407 benign not specified 2012-07-24 criteria provided, single submitter clinical testing
GeneDx RCV000081476 SCV000171152 benign not specified 2013-12-19 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.
PreventionGenetics,PreventionGenetics RCV000081476 SCV000311727 benign not specified criteria provided, single submitter clinical testing
Invitae RCV001517754 SCV001726320 benign Limb-girdle muscular dystrophy-dystroglycanopathy, type C1; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1; Walker-Warburg congenital muscular dystrophy 2020-11-26 criteria provided, single submitter clinical testing

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