ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.2749A>G (p.Ile917Val)

gnomAD frequency: 0.00268  dbSNP: rs148871932
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000252772 SCV000313699 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000358692 SCV000626364 benign Fanconi anemia 2025-02-03 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000252772 SCV002047146 benign not specified 2021-05-18 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000252772 SCV002067554 benign not specified 2021-05-19 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316439 SCV004015711 benign Premature ovarian failure 15 2023-07-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004705113 SCV005211962 likely benign not provided criteria provided, single submitter not provided

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