ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.545+19C>T

gnomAD frequency: 0.38878  dbSNP: rs1981623
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000243527 SCV000306650 benign not specified criteria provided, single submitter clinical testing
Invitae RCV001514328 SCV001722148 benign Fanconi anemia 2022-11-04 criteria provided, single submitter clinical testing
GeneDx RCV001618406 SCV001845452 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001702385 SCV001933209 benign Fanconi anemia complementation group I 2021-08-10 criteria provided, single submitter clinical testing

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