ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.741= (p.Ala247=) (rs2806234)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038088 SCV000061754 likely benign not specified 2012-04-17 criteria provided, single submitter clinical testing Ala247Ala in Exon 06 of DSP: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue, is not located within t he splice consensus sequence. It has been identified in 0.2% (13/7020) of Europe an American chromosomes from a broad population by the NHLBI Exome Sequencing Pr oject (http://evs.gs.washington.edu/EVS; dbSNP rs2806234). Ala247Ala in Exon 06 of DSP (allele frequency = 0.2%, 13/7020; dbSNP rs2806234) **

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