ClinVar Miner

Submissions for variant NM_001278716.2(FBXL4):c.1750del (p.Cys584fs)

dbSNP: rs2128374874
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomics England Pilot Project, Genomics England RCV001542758 SCV001760191 likely pathogenic Mitochondrial DNA depletion syndrome 13 no assertion criteria provided clinical testing

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