ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.1101C>T (p.Arg367=)

gnomAD frequency: 0.00004  dbSNP: rs775495503
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000648193 SCV000770007 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 2024-12-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001835895 SCV002089613 uncertain significance Muscle eye brain disease 2019-10-28 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004533390 SCV004738458 likely benign POMGNT1-related disorder 2019-05-10 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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