ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.1543T>G (p.Ser515Ala)

dbSNP: rs777986630
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623508 SCV000741714 uncertain significance Inborn genetic diseases 2016-08-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: UNCERTAIN: Alteration(s) of Uncertain Clinical Significance Detected
Labcorp Genetics (formerly Invitae), Labcorp RCV002532833 SCV003472018 benign Transposition of the great arteries, dextro-looped 2024-12-03 criteria provided, single submitter clinical testing

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