ClinVar Miner

Submissions for variant NM_078480.3(PUF60):c.219del (p.Lys72_Tyr73insTer)

dbSNP: rs1586590135
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000988122 SCV001137715 pathogenic 8q24.3 microdeletion syndrome 2019-05-28 criteria provided, single submitter clinical testing

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