ClinVar Miner

Submissions for variant NM_000325.6(PITX2):c.350C>T (p.Pro117Leu)

dbSNP: rs1057519484
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV000416527 SCV000494269 pathogenic Axenfeld-Rieger syndrome type 1 2014-11-18 no assertion criteria provided clinical testing

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