ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.12G>C (p.Ser4=)

gnomAD frequency: 0.00003  dbSNP: rs1009539881
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001400959 SCV001602770 likely benign Fanconi anemia 2023-10-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001271635 SCV002804097 likely benign Fanconi anemia complementation group A 2022-03-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271635 SCV001452929 likely benign Fanconi anemia complementation group A 2020-05-05 no assertion criteria provided clinical testing

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