ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1911G>A (p.Leu637=)

dbSNP: rs914305609
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001466227 SCV001670227 likely benign Fanconi anemia 2022-06-09 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001466227 SCV002534932 likely benign Fanconi anemia 2022-02-08 criteria provided, single submitter curation

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