ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.796C>T (p.Arg266Trp)

gnomAD frequency: 0.00015  dbSNP: rs200363064
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000876799 SCV001019420 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 2024-01-25 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001508864 SCV001715282 uncertain significance not provided 2020-11-17 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001508864 SCV004236444 uncertain significance not provided 2023-06-27 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003890001 SCV004705211 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Natera, Inc. RCV001277255 SCV001464164 likely benign Muscle eye brain disease 2020-01-08 no assertion criteria provided clinical testing

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