ClinVar Miner

Submissions for variant NM_078480.3(PUF60):c.642del (p.Ile214_Ile215insTer)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV002289260 SCV002579875 likely pathogenic 8q24.3 microdeletion syndrome 2022-05-25 criteria provided, single submitter clinical testing

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