ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.634A>C (p.Arg212=)

gnomAD frequency: 0.00010  dbSNP: rs754839730
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000867876 SCV001009146 likely benign Fanconi anemia 2023-11-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003918394 SCV004730076 likely benign FANCA-related disorder 2023-09-28 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001276565 SCV001462963 likely benign Fanconi anemia complementation group A 2020-05-05 no assertion criteria provided clinical testing

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