ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2394C>T (p.Leu798=)

gnomAD frequency: 0.00001  dbSNP: rs765883419
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001431916 SCV001634678 likely benign Fanconi anemia 2023-10-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003405481 SCV004143607 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing FANCA: BP4, BP7
Natera, Inc. RCV001277943 SCV001464928 uncertain significance Fanconi anemia complementation group A 2020-08-14 no assertion criteria provided clinical testing

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