ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.843+1G>A (rs587779909)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410480 SCV000485681 likely pathogenic Fanconi anemia, complementation group C 2016-01-27 criteria provided, single submitter clinical testing
Invitae RCV000204814 SCV000260307 likely pathogenic Fanconi anemia 2015-08-29 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 8. It is expected to disrupt mRNA splicing and likely results in an absent or disrupted protein product. While this particular variant has not been reported in the literature, truncating variants in FANCC are known to be pathogenic. (PMID: 17924555, 15695377) In summary, this is a rare consensus splice site sequence change which is expected to disrupt gene function, but in the absence of disease segregation or functional studies, this variant has been classified as Likely Pathogenic

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