ClinVar Miner

Submissions for variant NM_032237.5(POMK):c.222C>T (p.Cys74=)

gnomAD frequency: 0.00008  dbSNP: rs147680806
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000910737 SCV001055625 likely benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12; Limb-girdle muscular dystrophy due to POMK deficiency 2024-01-10 criteria provided, single submitter clinical testing

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