ClinVar Miner

Submissions for variant NM_013382.7(POMT2):c.1593G>A (p.Leu531=)

gnomAD frequency: 0.00102  dbSNP: rs147934334
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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) RCV000357691 SCV000343412 likely benign not specified 2016-07-26 criteria provided, single submitter clinical testing
GeneDx RCV001527681 SCV000521802 likely benign not provided 2020-03-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000648192 SCV000770006 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 2024-01-23 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000357691 SCV001475405 benign not specified 2024-07-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003977804 SCV004794750 likely benign POMT2-related disorder 2022-08-10 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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