ClinVar Miner

Submissions for variant NM_014712.3(SETD1A):c.757C>T (p.Arg253Ter)

gnomAD frequency: 0.00001  dbSNP: rs2056099559
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV001801339 SCV002047548 pathogenic Schizophrenia no assertion criteria provided clinical testing

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