ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.1279-2A>G

gnomAD frequency: 0.00008  dbSNP: rs748006255
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV001536029 SCV001752722 likely pathogenic Fanconi anemia complementation group D2 2021-06-30 criteria provided, single submitter clinical testing
Baylor Genetics RCV001536029 SCV005057632 likely pathogenic Fanconi anemia complementation group D2 2024-02-21 criteria provided, single submitter clinical testing
GeneDx RCV005001226 SCV005626517 uncertain significance not provided 2024-07-10 criteria provided, single submitter clinical testing Identified in an individual with a history of breast and/or ovarian cancer, but additional clinical information was not included (PMID: 27153395); Canonical splice site variant predicted to result in an in-frame loss of the adjacent exon in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 27153395)

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