ClinVar Miner

Submissions for variant NM_032237.5(POMK):c.282+34C>A

gnomAD frequency: 0.99646  dbSNP: rs5024011
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001722697 SCV001949391 benign not provided 2018-06-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789559 SCV002031734 benign Limb-girdle muscular dystrophy due to POMK deficiency 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789558 SCV002031735 benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 2021-10-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001722697 SCV005265483 benign not provided criteria provided, single submitter not provided

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