ClinVar Miner

Submissions for variant NM_014927.5(CNKSR2):c.1235T>A (p.Leu412Ter)

dbSNP: rs2147123782
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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 RCV001375874 SCV001572775 pathogenic Intellectual disability, X-linked, syndromic, Houge type no assertion criteria provided clinical testing

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