ClinVar Miner

Submissions for variant NM_032237.5(POMK):c.618C>T (p.Asn206=)

gnomAD frequency: 0.00116  dbSNP: rs7005111
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001712289 SCV000532316 likely benign not provided 2021-06-22 criteria provided, single submitter clinical testing
Invitae RCV000537258 SCV000654042 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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