ClinVar Miner

Submissions for variant NM_017739.4(POMGNT1):c.1212-4T>G

gnomAD frequency: 0.00001  dbSNP: rs778941358
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000443706 SCV000533809 likely benign not specified 2016-11-17 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000977068 SCV001124980 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 2021-10-10 criteria provided, single submitter clinical testing

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