ClinVar Miner

Submissions for variant NM_032237.5(POMK):c.150G>C (p.Val50=)

dbSNP: rs2130601396
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001449071 SCV001652176 likely benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12; Limb-girdle muscular dystrophy due to POMK deficiency 2020-09-21 criteria provided, single submitter clinical testing

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