ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.1948-16T>G

dbSNP: rs2087653225
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001194920 SCV005328348 pathogenic Fanconi anemia complementation group D2 2024-09-25 criteria provided, single submitter clinical testing
Leiden Open Variation Database RCV001194920 SCV001364785 pathogenic 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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