ClinVar Miner

Submissions for variant NM_025099.6(CTC1):c.1025A>G (p.Asp342Gly)

gnomAD frequency: 0.01469  dbSNP: rs78390421
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000461111 SCV000407614 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 RCV000461111 SCV000554102 benign Dyskeratosis congenita 2024-01-26 criteria provided, single submitter clinical testing
GeneDx RCV001547192 SCV001766840 likely benign not provided 2022-03-02 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807230 SCV002055567 benign Cerebroretinal microangiopathy with calcifications and cysts 1 2021-07-15 criteria provided, single submitter clinical testing

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