ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1716-20T>C

gnomAD frequency: 0.00030  dbSNP: rs367726674
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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 RCV002088759 SCV002382591 likely benign Fanconi anemia 2024-12-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507951 SCV002805555 likely benign Fanconi anemia complementation group A 2021-09-25 criteria provided, single submitter clinical testing

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