ClinVar Miner

Submissions for variant NM_004629.2(FANCG):c.729T>C (p.Pro243=)

gnomAD frequency: 0.00010  dbSNP: rs199736443
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000871986 SCV001013731 likely benign Fanconi anemia 2023-12-24 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000871986 SCV002537555 likely benign Fanconi anemia 2020-10-28 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002507518 SCV002809218 likely benign Fanconi anemia complementation group G 2022-03-07 criteria provided, single submitter clinical testing

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