ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.4527_4559del (p.Arg1509_Ser1519del) (rs397516939)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000038048 SCV000061714 uncertain significance not specified 2011-08-22 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The Arg1509_Ser 1519del variant has not been reported in the literature but has been identified by our laboratory in 1 out of >200 Caucasian individuals sequenced to date. T his variant causes an in-frame deletion of 10 amino acids. While this is expect ed to severely impact the protein additional data such as control studies, segre gation data, or functional analysis is needed whether this variant is disease ca using.
Ambry Genetics RCV000617801 SCV000737876 uncertain significance Cardiovascular phenotype 2017-01-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence

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