ClinVar Miner

Submissions for variant NM_013382.7(POMT2):c.66C>T (p.Gly22=)

gnomAD frequency: 0.00027  dbSNP: rs200670377
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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) RCV000314138 SCV000338044 uncertain significance not provided 2018-09-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001084620 SCV000649947 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 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV000314138 SCV001766984 likely benign not provided 2020-02-06 criteria provided, single submitter clinical testing
Athena Diagnostics RCV004999226 SCV005620973 benign not specified 2024-09-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003947889 SCV004759396 likely benign POMT2-related disorder 2021-10-25 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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