ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2286C>T (p.Leu762=)

dbSNP: rs1419118181
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001500930 SCV001705731 likely benign Fanconi anemia 2023-10-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506580 SCV002804775 likely benign Fanconi anemia complementation group A 2021-12-07 criteria provided, single submitter clinical testing

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