ClinVar Miner

Submissions for variant NM_025099.6(CTC1):c.34-9T>G

gnomAD frequency: 0.00024  dbSNP: rs201195157
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000547685 SCV000631345 likely benign Dyskeratosis congenita 2024-01-29 criteria provided, single submitter clinical testing
Godley laboratory, The University of Chicago RCV001172447 SCV001250899 uncertain significance Cerebroretinal microangiopathy with calcifications and cysts 1 2020-05-18 criteria provided, single submitter clinical testing
GeneDx RCV001569942 SCV001794116 uncertain significance not provided 2023-07-11 criteria provided, single submitter clinical testing Clinical RNA sequencing from patient tissue as performed by an outside laboratory showed no evidence of any splicing alterations in intron 1 of CTC1 compared to tissue-matched controls, suggesting that this variant does not impact splicing; Has not been previously published as pathogenic or benign to our knowledge; In silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Genome-Nilou Lab RCV001172447 SCV002054486 uncertain significance Cerebroretinal microangiopathy with calcifications and cysts 1 2021-07-15 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000547685 SCV002531304 uncertain significance Dyskeratosis congenita 2021-09-15 criteria provided, single submitter curation

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