ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.4618G>A (p.Ala1540Thr)

dbSNP: rs2137275405
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
AiLife Diagnostics, AiLife Diagnostics RCV002223602 SCV002501351 uncertain significance not provided 2021-04-22 criteria provided, single submitter clinical testing
New York Genome Center RCV002266112 SCV002548597 uncertain significance Cardiac anomalies - developmental delay - facial dysmorphism syndrome 2021-06-11 criteria provided, single submitter clinical testing

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