ClinVar Miner

Submissions for variant NM_001077365.2(POMT1):c.310C>T (p.Leu104=)

gnomAD frequency: 0.00004  dbSNP: rs146982282
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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) RCV000081490 SCV000113421 uncertain significance not provided 2017-06-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001517108 SCV001725535 benign Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy 2023-11-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004734639 SCV005349442 likely benign POMT1-related disorder 2024-08-19 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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