ClinVar Miner

Submissions for variant NM_032806.6(POMGNT2):c.1384C>T (p.Arg462Trp)

gnomAD frequency: 0.00760  dbSNP: rs147175064
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001721311 SCV000528708 benign not provided 2018-06-27 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000440452 SCV000614744 likely benign not specified 2017-02-07 criteria provided, single submitter clinical testing
Invitae RCV000541186 SCV000652773 benign Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 2024-01-26 criteria provided, single submitter clinical testing

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