ClinVar Miner

Submissions for variant NM_032237.5(POMK):c.325C>T (p.Gln109Ter)

dbSNP: rs587777423
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pathology and Clinical Laboratory Medicine, King Fahad Medical City RCV000148014 SCV002073827 pathogenic Limb-girdle muscular dystrophy due to POMK deficiency criteria provided, single submitter clinical testing
OMIM RCV000119846 SCV000154772 pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 2014-11-01 no assertion criteria provided literature only
OMIM RCV000148014 SCV000195514 pathogenic Limb-girdle muscular dystrophy due to POMK deficiency 2014-11-01 no assertion criteria provided literature only

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