ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.568C>T (p.Leu190=) (rs752931210)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724802 SCV000331949 uncertain significance not provided 2017-05-09 criteria provided, single submitter clinical testing
Invitae RCV000552385 SCV000649902 likely benign Limb-girdle muscular dystrophy-dystroglycanopathy, type C1; Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1; Walker-Warburg congenital muscular dystrophy 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000402228 SCV000725911 likely benign not specified 2017-12-22 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.

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