ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.3920A>G (p.Tyr1307Cys)

gnomAD frequency: 0.00456  dbSNP: rs61730251
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000234221 SCV000290513 benign Fanconi anemia 2024-01-18 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV002479926 SCV002774634 benign not specified 2021-07-17 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316297 SCV004015712 benign Premature ovarian failure 15 2023-07-07 criteria provided, single submitter clinical testing

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