ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.5949_5950del (p.Gln1984fs)

dbSNP: rs869025289
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV001777155 SCV000262635 pathogenic Impaired intellectual development and distinctive facial features with cardiac defects 2021-09-30 no assertion criteria provided literature only

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