ClinVar Miner

Submissions for variant NM_032237.5(POMK):c.564C>T (p.Ile188=)

gnomAD frequency: 0.00136  dbSNP: rs55724435
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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 RCV000531372 SCV000654039 likely benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12; Limb-girdle muscular dystrophy due to POMK deficiency 2025-01-27 criteria provided, single submitter clinical testing
GeneDx RCV001591277 SCV001823525 likely benign not provided 2021-06-16 criteria provided, single submitter clinical testing

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