ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.3627_3630del (p.Pro1210fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV002288265 SCV002579650 likely pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome 2022-01-18 criteria provided, single submitter clinical testing

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