ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.880-4A>C

gnomAD frequency: 0.00001  dbSNP: rs1553163534
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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) RCV000591029 SCV000704286 uncertain significance not provided 2016-12-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001867944 SCV002127871 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 2023-07-14 criteria provided, single submitter clinical testing

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