ClinVar Miner

Submissions for variant NM_152515.5(CKAP2L):c.1169_1173del (p.Ile390fs)

dbSNP: rs1361993950
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sanford Medical Genetics Laboratory, Sanford Health RCV001714245 SCV001934572 pathogenic Filippi syndrome no assertion criteria provided clinical testing

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