ClinVar Miner

Submissions for variant NM_000325.6(PITX2):c.790del (p.Val264fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Human Developmental Genetics Laboratory, Medical College of Wisconsin RCV002293562 SCV002538940 pathogenic Axenfeld-Rieger syndrome type 1 2022-06-23 criteria provided, single submitter research

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