ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.289C>A (p.Arg97=)

dbSNP: rs564076183
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001428000 SCV001630692 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 2023-06-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003883639 SCV004700641 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing POMGNT1: PM2:Supporting, BP4, BP7

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