ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1158-5C>G

dbSNP: rs1328158335
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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 RCV001526137 SCV001736433 uncertain significance Cardiomyopathy 2020-06-22 criteria provided, single submitter clinical testing This variant causes a C to G nucleotide substitution at the -5 position of intron 6 of the LMNA gene. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 1/248700 chromosomes 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003745337 SCV004503667 likely benign Charcot-Marie-Tooth disease type 2 2023-02-25 criteria provided, single submitter clinical testing

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