ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.4334C>G (p.Ala1445Gly) (rs146745502)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039739 SCV000063428 benign not specified 2016-02-04 criteria provided, single submitter clinical testing p.Ala1445Gly in exon 32 of PCDH15: This variant is not expected to have clinical significance because it has been identified in 2.3% (261/11556) of Latino chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs146745502).
Illumina Clinical Services Laboratory,Illumina RCV000361500 SCV000363144 likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Clinical Services Laboratory,Illumina RCV000259782 SCV000363145 uncertain significance Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000889224 SCV001032891 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000889224 SCV001144874 benign not provided 2018-12-05 criteria provided, single submitter clinical testing

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