ClinVar Miner

Submissions for variant NM_000325.6(PITX2):c.391C>G (p.Leu131Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MVZ Medizinische Genetik Mainz RCV004555379 SCV005044352 uncertain significance Axenfeld-Rieger syndrome type 1 2023-02-09 criteria provided, single submitter clinical testing ACMG Criteria: PM2_SUP, PM5_SUP, PP2, PP3 (ACMG Version 4)

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