ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.57G>C (p.Arg19=)

gnomAD frequency: 0.00002  dbSNP: rs930955916
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001442434 SCV001645383 likely benign Fanconi anemia 2024-01-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501555 SCV002807776 likely benign Fanconi anemia complementation group A 2021-12-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV001442434 SCV002093154 likely benign Fanconi anemia 2021-06-21 no assertion criteria provided clinical testing

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