ClinVar Miner

Submissions for variant NM_003504.5(CDC45):c.1445_1448del (p.Lys482fs)

dbSNP: rs1933800287
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bicknell laboratory, University of Otago RCV001507095 SCV001653679 pathogenic Meier-Gorlin syndrome 7 no assertion criteria provided research

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