ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1185G>A (p.Ser395=) (rs397517890)

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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 RCV000041311 SCV000065003 likely benign not specified 2012-12-21 criteria provided, single submitter clinical testing Ser395Ser in exon 7 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. Ser395Ser in exon 7 of LMNA (allele frequency = n/a)
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725248 SCV000335287 uncertain significance not provided 2015-09-15 criteria provided, single submitter clinical testing
Color RCV000777976 SCV000914081 likely benign Cardiomyopathy 2018-04-13 criteria provided, single submitter clinical testing

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