ClinVar Miner

Submissions for variant NM_032806.6(POMGNT2):c.966C>G (p.Ser322=)

gnomAD frequency: 0.00186  dbSNP: rs141319921
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000252031 SCV000315009 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001697627 SCV000533784 likely benign not provided 2020-06-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000546097 SCV000652799 benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 2024-01-19 criteria provided, single submitter clinical testing

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