ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.*6G>A (rs397517885)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041304 SCV000064995 uncertain significance not specified 2012-03-02 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The *6G>A variant ( LMNA) has not been reported in the literature nor previously identified by our l aboratory. This variant occurs in the 3' untranslated region (3' UTR) and does n ot affect the coding sequence of the gene. Although this region can contain elem ents that regulate mRNA, there is no obvious predicted effect of this variant an d no other pathogenic variants have been reported in the 3' UTR region of the LM NA gene. In summary, the clinical significance of this variant cannot be determi ned at this time.

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