ClinVar Miner

Submissions for variant NM_021922.3(FANCE):c.358A>G (p.Ile120Val)

dbSNP: rs201961713
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000705786 SCV000834801 likely benign Fanconi anemia complementation group E 2024-12-26 criteria provided, single submitter clinical testing
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University RCV003153821 SCV003843559 benign Ovarian cancer 2022-01-01 criteria provided, single submitter clinical testing

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