ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.737G>A (p.Gly246Glu)

gnomAD frequency: 0.00007  dbSNP: rs555519520
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001243722 SCV001416898 likely benign Fanconi anemia 2024-01-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002504349 SCV002815379 uncertain significance Fanconi anemia complementation group A 2022-05-12 criteria provided, single submitter clinical testing
Natera, Inc. RCV001243722 SCV002095101 uncertain significance Fanconi anemia 2020-01-31 no assertion criteria provided clinical testing

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