ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.4206A>G (p.Gln1402=)

gnomAD frequency: 0.00015  dbSNP: rs745841768
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001442072 SCV001645013 benign Fanconi anemia 2024-01-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488250 SCV002794564 likely benign Fanconi anemia complementation group D2 2021-09-08 criteria provided, single submitter clinical testing

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