ClinVar Miner

Submissions for variant NM_000521.4(HEXB):c.214C>T (p.Leu72Phe) (rs147155126)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117219 SCV000151390 benign not specified 2017-05-01 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224126 SCV000281143 likely benign not provided 2016-02-17 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000117219 SCV000330967 likely benign not specified 2016-04-22 criteria provided, single submitter clinical testing
Invitae RCV001082206 SCV000629383 benign Sandhoff disease 2020-12-05 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000224126 SCV000892409 uncertain significance not provided 2017-08-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001082206 SCV001318409 benign Sandhoff disease 2017-04-27 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 rule this variant out of causing disease. Therefore, this variant is classified as benign.
GeneDx RCV000224126 SCV001831222 benign not provided 2019-04-25 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000224126 SCV000801316 benign not provided 2015-10-23 no assertion criteria provided clinical testing

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