ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.5656C>T (p.His1886Tyr)

gnomAD frequency: 0.00864  dbSNP: rs79343837
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192828 SCV000247358 benign not specified 2020-10-01 criteria provided, single submitter clinical testing
Invitae RCV000475473 SCV000558912 benign Fanconi anemia 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001538837 SCV001756543 likely benign not provided 2021-04-09 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000192828 SCV002774590 benign not specified 2021-07-07 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316085 SCV004015700 benign Premature ovarian failure 15 2023-07-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004530112 SCV004733178 benign FANCM-related disorder 2019-05-03 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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