ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.21C>T (p.Ser7=) (rs750532252)

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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 RCV000608904 SCV000712054 likely benign not specified 2016-05-06 criteria provided, single submitter clinical testing p.Ser7Ser in exon 1 of DSP: This variant is not expected to have clinical signif icance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 2/8472 of Latino chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs750532252).

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