ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.9501G>A (p.Thr3167=) (rs144906721)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039310 SCV000062994 benign not specified 2012-04-30 criteria provided, single submitter clinical testing Thr3167Thr in Exon 67 of CDH23: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 0.6% (21/3282) of Af rican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs144906721).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000039310 SCV000114035 likely benign not specified 2018-07-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000276340 SCV000483083 likely benign Metachromatic leukodystrophy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000331531 SCV000483084 likely benign Atypical Gaucher Disease 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000386012 SCV000483085 likely benign Combined saposin deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000291787 SCV000483086 likely benign Galactosylceramide beta-galactosidase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000888298 SCV001031926 benign not provided 2019-03-05 criteria provided, single submitter clinical testing

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