ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.623C>T (p.Ser208Leu)

gnomAD frequency: 0.00325  dbSNP: rs144420697
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000120962 SCV000302506 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000461615 SCV000558870 benign Fanconi anemia 2024-01-31 criteria provided, single submitter clinical testing
Counsyl RCV000664733 SCV000788740 uncertain significance Fanconi anemia complementation group A 2016-12-28 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000120962 SCV002047071 benign not specified 2021-05-11 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000120962 SCV002065321 benign not specified 2021-04-22 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV000664733 SCV004017564 benign Fanconi anemia complementation group A 2023-07-07 criteria provided, single submitter clinical testing
ITMI RCV000120962 SCV000085130 not provided not specified 2013-09-19 no assertion provided reference population
Natera, Inc. RCV000461615 SCV002090744 likely benign Fanconi anemia 2019-10-23 no assertion criteria provided clinical testing

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