ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1488+8G>A (rs762836610)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000220172 SCV000270359 likely benign not specified 2015-01-29 criteria provided, single submitter clinical testing c.1488+8G>A in intron 8 of LMNA: This variant is not expected to have clinical s ignificance because it is not located within the conserved splice consensus sequ ence. It has been identified in 0.1% (22/16602) South Asian chromosomes by the E xome Aggregation Consortium (ExAC,
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000725758 SCV000339206 uncertain significance not provided 2016-02-11 criteria provided, single submitter clinical testing
GeneDx RCV000220172 SCV000525280 likely benign not specified 2016-03-03 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001088656 SCV000775904 benign Charcot-Marie-Tooth disease, type 2 2019-12-31 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173413 SCV001336501 likely benign Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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