ClinVar Miner

Submissions for variant NM_017514.5(PLXNA3):c.214G>A (p.Glu72Lys) (rs149367480)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Human Genetics,Children's Hospital of Philadelphia RCV000477925 SCV000536839 uncertain significance Autistic disorder of childhood onset; Microtia 2016-08-22 no assertion criteria provided research Observed autism and left ear microtia with hearing loss

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