ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.1588G>C (p.Ala530Pro)

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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 RCV004724305 SCV005339137 uncertain significance MED13L-related disorder 2024-06-27 no assertion criteria provided clinical testing The MED13L c.1588G>C variant is predicted to result in the amino acid substitution p.Ala530Pro. To our knowledge, this variant has not been reported in the literature or in a large population database, 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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