ClinVar Miner

Submissions for variant NM_001142769.3(PCDH15):c.5295A>G (p.Pro1765=) (rs145178582)

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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 RCV000214030 SCV000269616 benign not specified 2015-07-02 criteria provided, single submitter clinical testing p.Pro1765Pro in Exon 37A of PCDH15: This variant is not expected to have clinica l significance because it does not alter an amino acid residue, is not located w ithin the splice consensus sequence, and has been identified in 0.9% (76/8364) o f African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro; dbSNP rs145178582).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000214030 SCV000707210 benign not specified 2017-03-27 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712513 SCV000843018 benign not provided 2018-05-25 criteria provided, single submitter clinical testing

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