ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.1111-6T>C

gnomAD frequency: 0.00006  dbSNP: rs751751349
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000306178 SCV000335920 uncertain significance not provided 2015-10-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002059133 SCV002324252 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 2024-01-15 criteria provided, single submitter clinical testing

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