ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.628C>T (p.Leu210Phe)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University RCV003154794 SCV003843734 likely pathogenic Ovarian cancer 2022-01-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005021828 SCV005639528 uncertain significance Fanconi anemia complementation group A 2024-01-22 criteria provided, single submitter clinical testing

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