ClinVar Miner

Submissions for variant NM_022474.4(PALS1):c.1289A>G (p.Glu430Gly)

dbSNP: rs2085184370
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Gene Discovery Core-Manton Center, Boston Children's Hospital RCV001263096 SCV001441168 pathogenic Cerebral palsy; Abnormal facial shape; Arachnoid cyst; Anxiety; Intellectual disability criteria provided, single submitter research

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