ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3698C>T (p.Ala1233Val)

dbSNP: rs545742908
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000463994 SCV000547776 likely benign Fanconi anemia 2024-01-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496760 SCV002780864 uncertain significance Fanconi anemia complementation group A 2021-11-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV000463994 SCV002092506 uncertain significance Fanconi anemia 2019-10-28 no assertion criteria provided clinical testing

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