ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.1927C>T (p.Arg643Ter) (rs121917709)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kariminejad - Najmabadi Pathology & Genetics Center RCV000850085 SCV000992250 pathogenic Pallister-Hall syndrome 2018-06-19 criteria provided, single submitter clinical testing
OMIM RCV000014831 SCV000035086 pathogenic Postaxial polydactyly, type A1/B 1999-09-01 no assertion criteria provided literature only

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