ClinVar Miner

Submissions for variant NM_032237.5(POMK):c.886A>G (p.Ile296Val)

gnomAD frequency: 0.00111  dbSNP: rs6990761
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001712290 SCV000532317 likely benign not provided 2021-07-12 criteria provided, single submitter clinical testing
Invitae RCV000527716 SCV000654050 likely benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12; Limb-girdle muscular dystrophy due to POMK deficiency 2024-01-04 criteria provided, single submitter clinical testing

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