ClinVar Miner

Submissions for variant NM_078480.3(PUF60):c.901A>T (p.Lys301Ter)

dbSNP: rs1563823411
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000735800 SCV000863962 pathogenic 8q24.3 microdeletion syndrome 2018-12-21 no assertion criteria provided literature only

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