ClinVar Miner

Submissions for variant NM_001008537.3(NEXMIF):c.2147T>G (p.Val716Gly)

gnomAD frequency: 0.00003  dbSNP: rs1022775047
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001363121 SCV001559220 uncertain significance not provided 2021-09-01 criteria provided, single submitter clinical testing
GeneDx RCV001363121 SCV001998143 uncertain significance not provided 2020-12-21 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge

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