ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.1175+16G>A

gnomAD frequency: 0.00030  dbSNP: rs371908251
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000601161 SCV000719108 likely benign not specified 2017-05-08 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 RCV002063224 SCV002439382 benign Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy 2024-01-18 criteria provided, single submitter clinical testing

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