ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.289C>T (p.Arg97Trp)

gnomAD frequency: 0.00003  dbSNP: rs564076183
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000292805 SCV000344487 likely benign not specified 2016-08-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000875472 SCV001017806 benign Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 2024-01-15 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003488504 SCV004237865 likely benign not provided 2023-11-17 criteria provided, single submitter clinical testing

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