ClinVar Miner

Submissions for variant NM_025099.6(CTC1):c.3153G>C (p.Arg1051=)

gnomAD frequency: 0.01548  dbSNP: rs3027242
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000475889 SCV000407595 likely benign Dyskeratosis congenita 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV000475889 SCV000554101 benign Dyskeratosis congenita 2024-01-26 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000508478 SCV000603237 benign not specified 2016-12-05 criteria provided, single submitter clinical testing
GeneDx RCV001558081 SCV001779955 likely benign not provided 2020-12-17 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807218 SCV002055556 benign Cerebroretinal microangiopathy with calcifications and cysts 1 2021-07-15 criteria provided, single submitter clinical testing

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