ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.1420-9G>C

dbSNP: rs1758956235
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001185940 SCV001352251 uncertain significance Cardiomyopathy 2020-02-09 criteria provided, single submitter clinical testing This variant causes a G>C nucleotide substitution at the -9 position of intron 11 of the DSP gene. Splice site prediction tools and conservation analysis are inconclusive regarding the impact of this variant on RNA splicing. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Invitae RCV002559923 SCV003207459 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2022-06-07 criteria provided, single submitter clinical testing

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