ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.4931G>A (p.Arg1644Gln)

gnomAD frequency: 0.00046  dbSNP: rs138151018
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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 RCV000501507 SCV000594741 likely benign not specified 2015-10-07 criteria provided, single submitter clinical testing
Invitae RCV000525806 SCV000626376 benign Fanconi anemia 2024-01-28 criteria provided, single submitter clinical testing
GeneDx RCV001567966 SCV001791749 likely benign not provided 2020-09-15 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 21279724, 28717660, 31296309, 26067930)
Sema4, Sema4 RCV002255419 SCV002529866 likely benign Hereditary cancer-predisposing syndrome 2021-07-26 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000501507 SCV002774623 benign not specified 2021-07-15 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316648 SCV004015696 benign Premature ovarian failure 15 2023-07-07 criteria provided, single submitter clinical testing

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