ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.3378del (p.Ser1127fs)

dbSNP: rs2125072480
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001781085 SCV002024585 likely pathogenic Fanconi anemia complementation group D2 2019-06-28 criteria provided, single submitter clinical testing
Baylor Genetics RCV001781085 SCV004196752 likely pathogenic Fanconi anemia complementation group D2 2023-05-23 criteria provided, single submitter clinical testing

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