ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.1263T>C (p.Thr421=)

gnomAD frequency: 0.23801  dbSNP: rs7921598
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Total submissions: 10
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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 RCV000039698 SCV000063387 benign not specified 2009-06-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000039698 SCV000315055 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000293259 SCV000363217 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000086941 SCV001730439 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001276783 SCV001750553 benign Usher syndrome type 1F 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV000086941 SCV001944835 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002483009 SCV002801204 benign Autosomal recessive nonsyndromic hearing loss 23; Usher syndrome type 1D; Usher syndrome type 1F 2022-05-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000086941 SCV005322708 benign not provided criteria provided, single submitter not provided
NEI Ophthalmic Genomics Laboratory, National Institutes of Health RCV000086941 SCV000119193 not provided not provided no assertion provided not provided
Natera, Inc. RCV001276783 SCV001463331 benign Usher syndrome type 1F 2020-09-16 no assertion criteria provided clinical testing

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