ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2022G>A (p.Ser674=)

gnomAD frequency: 0.00001  dbSNP: rs371997754
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001485581 SCV001690018 likely benign Fanconi anemia 2023-10-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506559 SCV002808962 likely benign Fanconi anemia complementation group A 2022-05-02 criteria provided, single submitter clinical testing

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