ClinVar Miner

Submissions for variant NM_013382.7(POMT2):c.1935C>T (p.Leu645=)

gnomAD frequency: 0.00066  dbSNP: rs141193672
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000307780 SCV000337082 uncertain significance not provided 2017-08-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001089293 SCV000649935 benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2; Autosomal recessive limb-girdle muscular dystrophy type 2N 2024-01-17 criteria provided, single submitter clinical testing
GeneDx RCV000307780 SCV001811174 likely benign not provided 2021-04-24 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001820818 SCV002068512 likely benign not specified 2017-07-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003939993 SCV004753687 likely benign POMT2-related disorder 2019-11-14 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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