ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1701C>T (p.Thr567=)

gnomAD frequency: 0.00001  dbSNP: rs745466726
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001506201 SCV001711120 likely benign Fanconi anemia 2024-07-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506151 SCV002809625 likely benign Fanconi anemia complementation group A 2022-04-14 criteria provided, single submitter clinical testing

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