ClinVar Miner

Submissions for variant NM_000303.3(PMM2):c.347+5G>A

gnomAD frequency: 0.00005  dbSNP: rs1373876757
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001799943 SCV002043977 likely pathogenic not provided 2021-12-26 criteria provided, single submitter clinical testing Intronic +5 splice site variant in a gene for which loss-of-function is a known mechanism of disease, and splice predictors support a deleterious effect; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge

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