ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.1041G>A (p.Pro347=)

gnomAD frequency: 0.00147  dbSNP: rs140998495
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000249711 SCV000313693 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000304212 SCV000626348 benign Fanconi anemia 2024-02-01 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000249711 SCV002047145 benign not specified 2021-05-18 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000249711 SCV002065718 benign not specified 2021-05-19 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316437 SCV004015710 benign Premature ovarian failure 15 2023-07-07 criteria provided, single submitter clinical testing

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