ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.5173C>T (p.Gln1725Ter)

dbSNP: rs1135401765
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000496127 SCV000586705 pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome 2017-08-01 criteria provided, single submitter clinical testing De novo LOF variant in a patient with moderate ID, attention difficulties, strabismus, hypotonia, cryptorchidism.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252141 SCV002522836 pathogenic See cases 2021-08-31 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1, PS4, PM2, PM6

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