ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.489C>T (p.Phe163=)

dbSNP: rs1379184772
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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 RCV002147518 SCV002414199 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 2022-11-01 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003889057 SCV004705266 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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