ClinVar Miner

Submissions for variant NM_000325.6(PITX2):c.431G>C (p.Arg144Pro)

dbSNP: rs104893859
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001266803 SCV001444982 likely pathogenic Inborn genetic diseases 2018-12-13 criteria provided, single submitter clinical testing
Human Developmental Genetics Laboratory, Medical College of Wisconsin RCV000008555 SCV002538952 pathogenic Axenfeld-Rieger syndrome type 1 2022-06-23 criteria provided, single submitter research
OMIM RCV000008555 SCV000028763 pathogenic Axenfeld-Rieger syndrome type 1 1996-12-01 no assertion criteria provided literature only

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