ClinVar Miner

Submissions for variant NM_178857.6(RP1L1):c.4306T>C (p.Ser1436Pro)

dbSNP: rs756335904
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001754044 SCV001987001 uncertain significance not provided 2019-06-11 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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