ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2247C>T (p.Phe749=)

gnomAD frequency: 0.00001  dbSNP: rs772842754
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
Invitae RCV001451558 SCV001655190 likely benign Fanconi anemia 2023-10-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495639 SCV002801603 likely benign Fanconi anemia complementation group A 2021-10-27 criteria provided, single submitter clinical testing

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