ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3246C>T (p.Leu1082=)

gnomAD frequency: 0.00001  dbSNP: rs753864057
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000864322 SCV001005111 likely benign Fanconi anemia 2023-10-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001280427 SCV002806504 likely benign Fanconi anemia complementation group A 2021-08-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV001280427 SCV001467607 uncertain significance Fanconi anemia complementation group A 2020-08-14 no assertion criteria provided clinical testing

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