ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.1746C>T (p.Ser582=)

gnomAD frequency: 0.00007  dbSNP: rs376373313
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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) RCV000594345 SCV000704562 uncertain significance not provided 2016-12-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001459502 SCV001663342 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy 2023-12-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004543349 SCV004768969 likely benign POMT1-related disorder 2020-02-12 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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