ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.2190A>G (p.Gln730=)

gnomAD frequency: 0.00320  dbSNP: rs117392855
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000231257 SCV000290509 benign Fanconi anemia 2024-01-28 criteria provided, single submitter clinical testing
GeneDx RCV001706271 SCV001839702 benign not provided 2019-06-15 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002257593 SCV002527327 benign Hereditary cancer-predisposing syndrome 2021-05-17 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV002479925 SCV002774612 benign not specified 2021-08-10 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316295 SCV004015697 benign Premature ovarian failure 15 2023-07-07 criteria provided, single submitter clinical testing

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