ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.5154G>A (p.Leu1718=) (rs376620183)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000150572 SCV000197828 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Leu1718Leu in exon 23 of DSP: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 1/7020 European Am erican chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS).
Ambry Genetics RCV000618956 SCV000737945 likely benign Cardiovascular phenotype 2017-03-22 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Color RCV000777984 SCV000914089 likely benign Cardiomyopathy 2018-10-08 criteria provided, single submitter clinical testing
Invitae RCV000869208 SCV001010616 likely benign Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2019-12-31 criteria provided, single submitter clinical testing

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