ClinVar Miner

Submissions for variant NM_033028.5(BBS4):c.220+1G>C (rs113994190)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000020933 SCV000553795 pathogenic Bardet-Biedl syndrome 2016-08-10 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 4 of the BBS4 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. Loss-of-function variants in BBS4 are known to be pathogenic. This particular variant has been reported in individuals affected with Bardet-Biedl syndrome (PMID: 11381270). ClinVar contains an entry for this variant (Variation ID: 21729). For these reasons, this variant has been classified as Pathogenic.
GeneReviews RCV000020933 SCV000041549 pathologic Bardet-Biedl syndrome 2009-10-13 no assertion criteria provided curation Converted during submission to Pathogenic.

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