ClinVar Miner

Submissions for variant NM_006204.4(PDE6C):c.2283+1G>T

dbSNP: rs760343056
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV002250994 SCV002521300 pathogenic Cone dystrophy 4 2022-05-22 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Canonical splice site: predicted to alter splicing and result in a loss or disruption of normal protein function. Multiple pathogenic loss-of-function variants are reported downstream of the variant. The variant is inherited from mother and shared with affected sibling (3billion dataset). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.

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