ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.1702G>A (p.Ala568Thr) (rs61730754)

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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, Partners HealthCare Personalized Medicine RCV000039706 SCV000063395 benign not specified 2011-12-07 criteria provided, single submitter clinical testing Ala568Thr in exon 14 of PCDH15: This variant is not expected to have clinical si gnificance because it has been identified in 0.8% (51/6789) of chromosomes from a broad, though clinically and racially unspecified population (dbSNP rs61730754 ).
PreventionGenetics,PreventionGenetics RCV000039706 SCV000315059 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000039706 SCV000714363 likely benign not specified 2017-03-28 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000888746 SCV001032399 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000039706 SCV001156875 benign not specified 2019-04-05 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001106126 SCV001263160 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.

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