ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.9C>T (p.Ser3=) (rs1800428)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000079053 SCV000110922 benign not specified 2012-08-01 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000079053 SCV000304646 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000313948 SCV000393841 likely benign Tay-Sachs disease 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000079053 SCV000513235 benign not specified 2015-07-15 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000313948 SCV000557159 benign Tay-Sachs disease 2020-12-05 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001283668 SCV000603954 benign none provided 2020-05-11 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV000313948 SCV001737379 benign Tay-Sachs disease 2021-06-10 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000079053 SCV000151388 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Mayo Clinic Laboratories, Mayo Clinic RCV000675469 SCV000801158 benign not provided 2015-12-16 no assertion criteria provided clinical testing
Natera, Inc. RCV000313948 SCV001190676 benign Tay-Sachs disease 2019-05-20 no assertion criteria provided clinical testing

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