ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.6C>G (p.Ser2=)

gnomAD frequency: 0.00002  dbSNP: rs982258436
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001476077 SCV001680281 likely benign Fanconi anemia 2022-09-20 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001476077 SCV002535069 likely benign Fanconi anemia 2021-10-15 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002503120 SCV002807953 likely benign Fanconi anemia complementation group A 2021-10-21 criteria provided, single submitter clinical testing

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