ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3690G>A (p.Leu1230=)

gnomAD frequency: 0.00001  dbSNP: rs1369764790
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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 RCV001415283 SCV001617436 likely benign Fanconi anemia 2020-07-15 criteria provided, single submitter clinical testing

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