Submissions for variant NM_022124.6(CDH23):c.2572G>A (p.Val858Ile) (rs181275139)

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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	RCV000039131	SCV000062813	likely benign	not specified	2017-06-20	criteria provided, single submitter	clinical testing	p.Val858Ile in exon 23 of CDH23: This variant is not expected to have clinical s ignificance because the valine (Val) at position 858 is not conserved, with over 10 mammals having an isoleuceine (Ile) at this position. Furthermore, the vari ant is present in 0.4% (83/18868) of East Asian chromosomes by the Genome Aggreg ation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs181275139).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics	RCV000039131	SCV000228074	likely benign	not specified	2016-07-26	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000294284	SCV000363655	uncertain significance	Deafness, autosomal recessive 12	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	RCV000349179	SCV000363656	uncertain significance	Usher syndrome type 1D	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.
Invitae	RCV000887995	SCV001031597	benign	not provided	2019-12-31	criteria provided, single submitter	clinical testing

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