ClinVar Miner

Submissions for variant NM_032237.5(POMK):c.541C>T (p.Leu181=)

dbSNP: rs563599638
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000877325 SCV001020047 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
GeneDx RCV001556816 SCV001778463 likely benign not provided 2018-12-11 criteria provided, single submitter clinical testing

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