ClinVar Miner

Submissions for variant NM_001142771.2(PCDH15):c.4982A>C (p.Gln1661Pro) (rs17704703)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000712512 SCV000843017 benign not provided 2018-05-09 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000222137 SCV000269621 benign not specified 2012-05-07 criteria provided, single submitter clinical testing Gln1661Pro in Exon 37 of PCDH15: This variant is not expected to have clinical s ignificance because it has been identified in 29.7% (1617/5446) of European Amer ican chromosomes from a broad population by the NHLBI Exome Sequencing Project ( http://evs.gs.washington.edu/EVS; dbSNP rs17704703).

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