ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.3865C>T (p.Pro1289Ser)

gnomAD frequency: 0.00002  dbSNP: rs781605384
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001788952 SCV002030159 uncertain significance Fanconi anemia complementation group D2 2021-08-24 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV003320488 SCV004024687 uncertain significance not specified 2023-08-15 criteria provided, single submitter clinical testing

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