ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.4576C>A (p.Pro1526Thr)

gnomAD frequency: 0.00001  dbSNP: rs752521430
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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 RCV001267016 SCV001445197 uncertain significance Inborn genetic diseases 2018-04-02 criteria provided, single submitter clinical testing
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn RCV001843577 SCV002103057 uncertain significance Cardiac anomalies - developmental delay - facial dysmorphism syndrome 2022-02-23 criteria provided, single submitter clinical testing PP2, PP3

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