ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3357C>T (p.Phe1119=)

gnomAD frequency: 0.00001  dbSNP: rs878853664
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672377 SCV000797476 likely benign Fanconi anemia complementation group A 2018-01-30 criteria provided, single submitter clinical testing
Invitae RCV001411639 SCV001613702 likely benign Fanconi anemia 2022-10-11 criteria provided, single submitter clinical testing

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