ClinVar Miner

Submissions for variant NM_003309.4(TSPYL1):c.725_726del (p.Val242fs) (rs775957625)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000993688 SCV001450719 likely pathogenic Sudden infant death with dysgenesis of the testes syndrome 2020-05-14 criteria provided, single submitter clinical testing
Baylor Genetics RCV000993688 SCV001521184 pathogenic Sudden infant death with dysgenesis of the testes syndrome 2019-05-17 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Department of Molecular and Human Genetics, Baylor College of Medicine RCV000993688 SCV001142567 pathogenic Sudden infant death with dysgenesis of the testes syndrome 2020-01-10 no assertion criteria provided clinical testing

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