ClinVar Miner

Submissions for variant NM_018062.4(FANCL):c.993A>G (p.Gln331=)

gnomAD frequency: 0.00001  dbSNP: rs777378352
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003635933 SCV001095495 likely benign Fanconi anemia 2023-12-12 criteria provided, single submitter clinical testing

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