ClinVar Miner

Submissions for variant NM_000325.6(PITX2):c.558G>A (p.Trp186Ter)

dbSNP: rs104893860
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Human Developmental Genetics Laboratory, Medical College of Wisconsin RCV000008556 SCV002538938 pathogenic Axenfeld-Rieger syndrome type 1 2022-06-23 criteria provided, single submitter research
OMIM RCV000008556 SCV000028764 pathogenic Axenfeld-Rieger syndrome type 1 1996-12-01 no assertion criteria provided literature only

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