ClinVar Miner

Submissions for variant NM_000153.3(GALC):c.1162-4delT (rs11300320)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078190 SCV000110028 benign not specified 2014-08-01 criteria provided, single submitter clinical testing
GeneDx RCV000078190 SCV000581692 benign not specified 2018-01-31 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.
Illumina Clinical Services Laboratory,Illumina RCV000292380 SCV000389248 benign Galactosylceramide beta-galactosidase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588497 SCV000695653 benign not provided 2016-05-16 criteria provided, single submitter clinical testing Variant summary: The GALC c.1162-4delT variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a polymorphism outcome for this variant. This variant was found in 104106/106498 control chromosomes (50900 homozygotes) at a frequency of 0.9775395, which is approximately 437 times the estimated maximal expected allele frequency of a pathogenic GALC variant (0.0022361), suggesting this variant is likely a benign polymorphism and the major allele in general population. In addition, one clinical diagnostic laboratory classified this variant as benign. Taken together, this variant is classified as benign.
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine RCV000454160 SCV000537964 likely pathogenic Abnormality of brain morphology criteria provided, single submitter research
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000588497 SCV000800908 benign not provided 2015-10-21 no assertion criteria provided clinical testing

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