ClinVar Miner

Submissions for variant NM_177438.3(DICER1):c.4704C>T (p.Gly1568=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV004999062 SCV005624186 uncertain significance not provided 2024-04-30 criteria provided, single submitter clinical testing The DICER1 c.4704C>T (p.Gly1568=) synonymous variant has not been reported in individuals with DICER1-related conditions in the published literature. It also has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on splicing yielded predictions that this variant does not affect DICER1 mRNA splicing. Based on the available information, we are unable to determine the clinical significance of this variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV005061836 SCV005722564 likely benign DICER1-related tumor predisposition 2024-05-02 criteria provided, single submitter clinical testing

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