ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.2445G>A (p.Ser815=)

gnomAD frequency: 0.00791  dbSNP: rs61745871
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000234191 SCV000290510 benign Fanconi anemia 2024-01-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000244452 SCV000313697 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001577051 SCV001804368 likely benign not provided 2021-08-09 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000244452 SCV002064940 benign not specified 2022-01-03 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000244452 SCV002774668 benign not specified 2021-08-20 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316296 SCV004015705 benign Premature ovarian failure 15 2023-07-07 criteria provided, single submitter clinical testing

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