ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3627-17C>T

gnomAD frequency: 0.00001  dbSNP: rs754751562
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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 RCV001504082 SCV001708945 likely benign Fanconi anemia 2024-12-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488297 SCV002802875 likely benign Fanconi anemia complementation group A 2021-11-12 criteria provided, single submitter clinical testing

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