ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.2547A>G (p.Lys849=)

gnomAD frequency: 0.04152  dbSNP: rs7183618
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000226449 SCV000285891 benign Fanconi anemia 2024-02-01 criteria provided, single submitter clinical testing

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