ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.5156A>C (p.Gln1719Pro)

gnomAD frequency: 0.20017  dbSNP: rs17704703
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham 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).
Athena Diagnostics RCV000712512 SCV000843017 benign not provided 2018-05-09 criteria provided, single submitter clinical testing
Mendelics RCV000988359 SCV001138047 benign Usher syndrome type 1F 2019-05-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000988359 SCV001750450 benign Usher syndrome type 1F 2021-07-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001788082 SCV002029417 benign Autosomal recessive nonsyndromic hearing loss 23 2021-09-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000712512 SCV005322650 benign not provided criteria provided, single submitter not provided

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