ClinVar Miner

Submissions for variant NM_005052.3(RAC3):c.182A>T (p.Gln61Leu)

dbSNP: rs1568018920
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Costain lab, The Hospital for Sick Children RCV000709613 SCV000783111 association Intellectual disability; Abnormal brain morphology no assertion criteria provided provider interpretation
OMIM RCV000850259 SCV000992431 pathogenic Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies 2021-08-03 no assertion criteria provided literature only

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