ClinVar Miner

Submissions for variant NM_152617.4(RNF168):c.1323_1326del (p.Gln442fs)

dbSNP: rs1047608955
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000000517 SCV000020666 pathogenic RIDDLE syndrome 2009-02-06 no assertion criteria provided literature only

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