ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1173C>T (p.Ser391=)

dbSNP: rs2040091412
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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 RCV002075948 SCV002428501 likely benign Fanconi anemia 2021-07-03 criteria provided, single submitter clinical testing

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