ClinVar Miner

Submissions for variant NM_025099.6(CTC1):c.1548G>A (p.Pro516=)

gnomAD frequency: 0.00001  dbSNP: rs781000475
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000877422 SCV001020157 benign Dyskeratosis congenita 2023-12-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000877422 SCV001282574 uncertain significance Dyskeratosis congenita 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Genome-Nilou Lab RCV001807369 SCV002055638 likely benign Cerebroretinal microangiopathy with calcifications and cysts 1 2021-07-15 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000877422 SCV002531261 likely benign Dyskeratosis congenita 2021-11-26 criteria provided, single submitter curation
CeGaT Center for Human Genetics Tuebingen RCV002264038 SCV002545879 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing CTC1: BP4, BP7

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