ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2015-5C>T

gnomAD frequency: 0.00005  dbSNP: rs780349960
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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 RCV000252915 SCV000302473 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000867005 SCV001008185 likely benign Fanconi anemia 2024-01-31 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000867005 SCV002534934 uncertain significance Fanconi anemia 2021-09-25 criteria provided, single submitter curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316331 SCV004017592 likely benign Fanconi anemia complementation group A 2023-07-07 criteria provided, single submitter clinical testing

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