ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.520C>T (p.Arg174Ter)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003460202 SCV004196756 likely pathogenic Fanconi anemia complementation group D2 2023-03-22 criteria provided, single submitter clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003460202 SCV004807568 likely pathogenic Fanconi anemia complementation group D2 2024-03-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV003460202 SCV005656862 pathogenic Fanconi anemia complementation group D2 2024-04-04 criteria provided, single submitter clinical testing

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