ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.1194C>G (p.Pro398=)

dbSNP: rs371653610
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000726459 SCV000344830 uncertain significance not provided 2016-09-17 criteria provided, single submitter clinical testing
GeneDx RCV000261691 SCV000522853 likely benign not specified 2016-01-28 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 RCV001415274 SCV001617427 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy 2024-12-26 criteria provided, single submitter clinical testing

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