ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.4379T>C (p.Leu1460Pro)

dbSNP: rs2499831622
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV004531710 SCV004118342 uncertain significance MED13L-related disorder 2023-02-27 criteria provided, single submitter clinical testing The MED13L c.4379T>C variant is predicted to result in the amino acid substitution p.Leu1460Pro. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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