ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.558C>T (p.His186=)

dbSNP: rs149159377
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001405201 SCV001607119 likely benign Fanconi anemia 2023-08-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488220 SCV002799215 likely benign Fanconi anemia complementation group A 2021-09-23 criteria provided, single submitter clinical testing

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