ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.2023del (p.Glu675fs) (rs116840744)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000014825 SCV000035080 pathogenic Pallister-Hall syndrome 1997-03-01 no assertion criteria provided literature only
GeneReviews RCV000014825 SCV000054471 pathologic Pallister-Hall syndrome 2012-09-13 no assertion criteria provided curation Converted during submission to Pathogenic.

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