ClinVar Miner

Submissions for variant NM_001368894.2(PAX6):c.200_201del (p.Val67fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Wessex Regional Genetics Laboratory, Salisbury District Hospital RCV000984377 SCV001055728 pathogenic Aniridia 1 2019-08-15 no assertion criteria provided clinical testing

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