ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.486G>A (p.Leu162=) (rs727503135)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000150938 SCV000198594 likely benign not specified 2014-05-22 criteria provided, single submitter clinical testing Leu162Leu in exon 2 of LMNA: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence.
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173411 SCV001336499 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Color RCV001188346 SCV001355383 likely benign Cardiomyopathy 2019-11-13 criteria provided, single submitter clinical testing

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