ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2874G>A (p.Ala958=)

gnomAD frequency: 0.00001  dbSNP: rs199916178
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001503585 SCV001708441 likely benign Fanconi anemia 2024-05-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV001280431 SCV001467611 uncertain significance Fanconi anemia complementation group A 2020-07-03 no assertion criteria provided clinical testing

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