ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1626+16C>T

gnomAD frequency: 0.00322  dbSNP: rs1800333
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000252566 SCV000302461 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV001520809 SCV001730006 benign Fanconi anemia 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV002264925 SCV002546718 likely benign not provided 2021-05-24 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316329 SCV004017563 likely benign Fanconi anemia complementation group A 2023-07-07 criteria provided, single submitter clinical testing

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