ClinVar Miner

Submissions for variant NM_032237.5(POMK):c.588T>C (p.Pro196=)

gnomAD frequency: 0.00001  dbSNP: rs766337800
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001433249 SCV001636038 likely benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12; Limb-girdle muscular dystrophy due to POMK deficiency 2024-12-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003913185 SCV004732515 likely benign POMK-related disorder 2021-02-16 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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