ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.345G>A (p.Ser115=)

gnomAD frequency: 0.00001  dbSNP: rs147212285
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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) RCV000725576 SCV000337899 uncertain significance not provided 2017-05-05 criteria provided, single submitter clinical testing
GeneDx RCV000365109 SCV000526968 likely benign not specified 2016-04-29 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.
Invitae RCV001370260 SCV001566730 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy 2023-09-27 criteria provided, single submitter clinical testing

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