ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.342C>T (p.Ala114=)

gnomAD frequency: 0.00010  dbSNP: rs777989691
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000502474 SCV000594650 likely benign not specified 2017-05-22 criteria provided, single submitter clinical testing
Invitae RCV000867878 SCV001009148 likely benign Fanconi anemia 2024-01-18 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316647 SCV004017582 likely benign Fanconi anemia complementation group A 2023-07-07 criteria provided, single submitter clinical testing

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