ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3192C>T (p.Ser1064=)

gnomAD frequency: 0.00001  dbSNP: rs768502785
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001399693 SCV001601484 likely benign Fanconi anemia 2021-05-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499845 SCV002809534 likely benign Fanconi anemia complementation group A 2022-02-17 criteria provided, single submitter clinical testing

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