ClinVar Miner

Submissions for variant NM_004629.2(FANCG):c.1365C>G (p.Thr455=)

gnomAD frequency: 0.00001  dbSNP: rs767385265
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001392144 SCV001593780 likely benign Fanconi anemia 2022-02-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001830908 SCV002800395 likely benign Fanconi anemia complementation group G 2021-10-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV001830908 SCV002085283 likely benign Fanconi anemia complementation group G 2020-11-24 no assertion criteria provided clinical testing

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