ClinVar Miner

Submissions for variant NM_013382.7(POMT2):c.2057G>A (p.Arg686Gln)

gnomAD frequency: 0.00005  dbSNP: rs200163818
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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) RCV000324625 SCV000333599 likely benign not specified 2016-08-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001084974 SCV000649936 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 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000547725 SCV001149277 uncertain significance not provided 2016-12-01 criteria provided, single submitter clinical testing
GeneDx RCV000547725 SCV001804764 likely benign not provided 2020-08-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003967712 SCV004776581 likely benign POMT2-related disorder 2024-01-30 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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