ClinVar Miner

Submissions for variant NM_032237.5(POMK):c.759C>T (p.Phe253=)

gnomAD frequency: 0.00028  dbSNP: rs201232766
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503839 SCV000597028 likely benign not specified 2017-02-08 criteria provided, single submitter clinical testing
Invitae RCV002060146 SCV002395964 likely benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12; Limb-girdle muscular dystrophy due to POMK deficiency 2023-12-10 criteria provided, single submitter clinical testing

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