ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2964G>C (p.Leu988=)

gnomAD frequency: 0.00003  dbSNP: rs751495133
Minimum review status: Collection method:
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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 RCV001395715 SCV001597430 likely benign Fanconi anemia 2023-08-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002504664 SCV002812967 likely benign Fanconi anemia complementation group A 2022-02-03 criteria provided, single submitter clinical testing

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