ClinVar Miner

Submissions for variant NM_001278716.2(FBXL4):c.1323del (p.Ala442fs)

dbSNP: rs1582367960
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Hadassah Hebrew University Medical Center RCV000991375 SCV001142769 likely pathogenic Mitochondrial DNA depletion syndrome 13 2019-06-20 criteria provided, single submitter clinical testing

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