ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1889A>T (p.Glu630Val)

gnomAD frequency: 0.00001  dbSNP: rs199599499
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001240806 SCV001413781 likely benign Fanconi anemia 2024-01-12 criteria provided, single submitter clinical testing
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University RCV003153955 SCV003843481 benign Ovarian cancer 2022-01-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001240806 SCV002094998 uncertain significance Fanconi anemia 2020-02-12 no assertion criteria provided clinical testing

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