ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.1279G>T (p.Val427Phe)

gnomAD frequency: 0.00001  dbSNP: rs529893298
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001194912 SCV002024587 likely pathogenic Fanconi anemia complementation group D2 2019-02-01 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002256693 SCV002529454 uncertain significance Fanconi anemia 2021-11-26 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV001194912 SCV002806239 uncertain significance Fanconi anemia complementation group D2 2021-12-07 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV001194912 SCV001364776 uncertain significance Fanconi anemia complementation group D2 2020-02-28 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.

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