ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.5353T>C (p.Ser1785Pro) (rs144261647)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039756 SCV000063445 likely benign not specified 2015-05-03 criteria provided, single submitter clinical testing p.Ser1785Pro in exon 33 of PCDH15: This variant is not expected to have clinica l significance because it has been identified in 0.5% (21/4570) of African chro mosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.or g; dbSNP rs144261647).
Illumina Clinical Services Laboratory,Illumina RCV000280214 SCV000363114 uncertain significance 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Illumina Clinical Services Laboratory,Illumina RCV000335311 SCV000363115 uncertain significance Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000901705 SCV001046088 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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