ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1911C>T (p.Phe637=) (rs117939448)

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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 RCV000041337 SCV000065030 likely benign not specified 2012-01-05 criteria provided, single submitter clinical testing Phe637Phe in exon 11 of LMNA: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. This variant has been identified in 0.3% (7/23 34) of chromosomes from a broad, though clinically and racially unspecified popu lation (dbSNP rs117939448) and in 3/3738 African American chromosomes in a borad and clinically unspecified cohort (http://evs.gs.washington.edu/EVS). Phe637Ph e in exon 11 of LMNA (rs117939448; 0.3%, 7/2334)
PreventionGenetics,PreventionGenetics RCV000041337 SCV000316408 likely benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000041337 SCV000339229 likely benign not specified 2016-08-29 criteria provided, single submitter clinical testing
Invitae RCV000473263 SCV000559819 benign Charcot-Marie-Tooth disease, type 2 2017-11-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619457 SCV000737977 likely benign Cardiovascular phenotype 2017-04-07 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign

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