ClinVar Miner

Submissions for variant NM_004629.2(FANCG):c.881G>A (p.Gly294Glu)

gnomAD frequency: 0.00014  dbSNP: rs17880082
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000228244 SCV000288631 benign Fanconi anemia 2024-01-29 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000502617 SCV000594710 uncertain significance not specified 2015-09-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764833 SCV000895989 uncertain significance Fanconi anemia complementation group G 2018-10-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003955346 SCV004777110 likely benign FANCG-related disorder 2022-04-13 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV000764833 SCV001452480 likely benign Fanconi anemia complementation group G 2020-01-11 no assertion criteria provided clinical testing

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