ClinVar Miner

Submissions for variant NM_032237.5(POMK):c.20A>G (p.Asn7Ser)

gnomAD frequency: 0.00080  dbSNP: rs143957574
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498565 SCV000590140 uncertain significance not provided 2020-01-03 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001085408 SCV000773317 likely benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12; Limb-girdle muscular dystrophy due to POMK deficiency 2025-01-20 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000498565 SCV003811790 uncertain significance not provided 2020-02-28 criteria provided, single submitter clinical testing

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