ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.5660C>T (p.Thr1887Ile) (rs397517340)

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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 RCV000039222 SCV000062906 benign not specified 2016-07-19 criteria provided, single submitter clinical testing p.Thr1887Ile in exon 43 of CDH23: This variant is not expected to have clinical significance because it has been identified in 2.6% (431/16512) of South Asian c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; dbSNP rs397517340).
Ambry Genetics RCV000210548 SCV000262934 uncertain significance Inborn genetic diseases criteria provided, single submitter clinical testing Overall WES conclusion for patient, including all identified alterations: Uncertain
Invitae RCV000912187 SCV001057281 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001107147 SCV001264281 likely benign Deafness, autosomal recessive 12 2017-05-23 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV001107148 SCV001264282 benign Usher syndrome type 1D 2017-05-23 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.

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