ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.166-9C>G

gnomAD frequency: 0.00001  dbSNP: rs372507085
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000871173 SCV001012781 likely benign Fanconi anemia 2023-12-01 criteria provided, single submitter clinical testing
Mendelics RCV000988224 SCV001137861 likely benign Fanconi anemia complementation group A 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV001615068 SCV001841680 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501306 SCV002805039 likely benign Fanconi anemia complementation group C 2021-07-20 criteria provided, single submitter clinical testing

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