ClinVar Miner

Submissions for variant NM_001142771.2(PCDH15):c.4686G>A (p.Thr1562=) (rs148772706)

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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 RCV000214975 SCV000269619 benign not specified 2012-04-30 criteria provided, single submitter clinical testing Thr1562Thr in Exon 36C of PCDH15: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence, and has been identified in 0.4% (20/5444) of European American chromosomes from a broad population by the NHLBI Exome Sequenc ing Project (http://evs.gs.washington.edu/EVS; dbSNP rs148772706).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000214975 SCV000341531 likely benign not specified 2016-05-17 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000992507 SCV001144878 benign not provided 2018-11-12 criteria provided, single submitter clinical testing

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