ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.4581C>A (p.Pro1527=)

gnomAD frequency: 0.12444  dbSNP: rs10825114
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Total submissions: 8
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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 RCV000039741 SCV000063430 benign not specified 2009-06-23 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000039741 SCV000203204 benign not specified 2014-01-30 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000304409 SCV000363143 benign Usher syndrome type 1 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV001522644 SCV001732229 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001274785 SCV001750452 benign Usher syndrome type 1F 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001522644 SCV001862885 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001787838 SCV002029419 benign Autosomal recessive nonsyndromic hearing loss 23 2021-09-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274785 SCV001459210 benign Usher syndrome type 1F 2020-09-16 no assertion criteria provided clinical testing

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