ClinVar Miner

Submissions for variant NM_032806.6(POMGNT2):c.674G>A (p.Arg225Gln)

gnomAD frequency: 0.00208  dbSNP: rs138980930
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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 RCV000246876 SCV000315008 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001697692 SCV000533783 likely benign not provided 2020-06-05 criteria provided, single submitter clinical testing
Invitae RCV000528367 SCV000652792 likely 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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