ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.3095del (p.Asn1032fs)

dbSNP: rs1559399574
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV000761274 SCV000891233 likely pathogenic Fanconi anemia complementation group D2 2016-11-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000761274 SCV002793784 likely pathogenic Fanconi anemia complementation group D2 2022-01-07 criteria provided, single submitter clinical testing

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