ClinVar Miner

Submissions for variant NM_005270.4(GLI2):c.4654A>T (p.Thr1552Ser) (rs1057518657)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000415289 SCV000328725 likely pathogenic Holoprosencephaly 9 2015-03-13 no assertion criteria provided clinical testing Our laboratory reported dual molecular diagnoses in GLI2 (NM_005270.4, c.4654A>T) and SCN2A (NM_021007.2, c.2229_2230del) in one individual with reported features of delayed motor milestones, delayed speech, autism, and undermyelination on brain MRI.

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