ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.4300G>A (p.Ala1434Thr)

dbSNP: rs1363042572
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001420553 SCV001622858 uncertain significance Cardiac anomalies - developmental delay - facial dysmorphism syndrome 2020-06-30 criteria provided, single submitter clinical testing

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