ClinVar Miner

Submissions for variant NM_014889.4(PITRM1):c.2420A>G (p.Lys807Arg)

gnomAD frequency: 0.00001  dbSNP: rs869025266
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Paul Sabatier University EA-4555, Paul Sabatier University RCV000207431 SCV000259159 likely benign Irido-corneo-trabecular dysgenesis 2013-01-01 criteria provided, single submitter clinical testing

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