ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.1786-9C>T

gnomAD frequency: 0.00001  dbSNP: rs961913683
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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) RCV000733317 SCV000861366 uncertain significance not provided 2018-05-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002067150 SCV002409265 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 2022-09-15 criteria provided, single submitter clinical testing

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