ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.2435T>C (p.Ile812Thr) (rs61731363)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000155383 SCV000205070 likely benign not specified 2012-05-07 criteria provided, single submitter clinical testing Ile812Thr in Exon 19 of PCDH15: This variant is not expected to have clinical si gnificance because it has been identified in 0.7% (26/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs61731363).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000155383 SCV000226971 benign not specified 2014-12-19 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000513885 SCV000610806 likely benign not provided 2017-04-11 criteria provided, single submitter clinical testing
Counsyl RCV000664808 SCV000788823 likely benign Usher syndrome type 1F 2017-01-09 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000513885 SCV000885888 benign not provided 2017-08-14 criteria provided, single submitter clinical testing
Invitae RCV000513885 SCV001109075 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001104967 SCV001261876 likely benign Usher syndrome type 1 2018-01-12 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.

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