ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.1284+9G>C

gnomAD frequency: 0.00026  dbSNP: rs565797493
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000726491 SCV000345049 uncertain significance not provided 2016-09-26 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000346335 SCV000596513 uncertain significance not specified 2016-08-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001079134 SCV000649954 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 2024-01-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV001833408 SCV002089606 likely benign Muscle eye brain disease 2020-11-07 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004543139 SCV004783191 likely benign POMGNT1-related disorder 2021-07-08 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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