ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.33G>C (p.Ser11=)

gnomAD frequency: 0.00001  dbSNP: rs1159682058
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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 RCV001467071 SCV001671089 likely benign Fanconi anemia 2024-12-12 criteria provided, single submitter clinical testing

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