ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.1760A>C (p.His587Pro)

dbSNP: rs1057524632
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000441326 SCV000536113 uncertain significance not provided 2021-09-27 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

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