ClinVar Miner

Submissions for variant NM_006195.6(PBX3):c.946_947insTA (p.Ala316fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Eye Disease Investigation Unit, University of Auckland RCV003128110 SCV003804276 likely pathogenic X-linked cone-rod dystrophy 2023-01-03 no assertion criteria provided clinical testing

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