ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3610C>T (p.Arg1204Trp)

gnomAD frequency: 0.00003  dbSNP: rs759303096
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001361375 SCV001557350 likely benign Fanconi anemia 2024-03-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002504592 SCV002815964 uncertain significance Fanconi anemia complementation group A 2024-01-08 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV002504592 SCV003832356 uncertain significance Fanconi anemia complementation group A 2019-06-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV001361375 SCV002092518 uncertain significance Fanconi anemia 2021-03-03 no assertion criteria provided clinical testing

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