ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.3040G>T (p.Gly1014Cys)

gnomAD frequency: 0.00398  dbSNP: rs77532752
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000230307 SCV000290512 benign Fanconi anemia 2024-02-01 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000503092 SCV000594739 benign not specified 2020-11-25 criteria provided, single submitter clinical testing
GeneDx RCV001706272 SCV001820238 likely benign not provided 2021-09-09 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000503092 SCV002774645 benign not specified 2021-07-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004541449 SCV004787797 benign FANCM-related disorder 2019-06-04 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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