ClinVar Miner

Submissions for variant NM_000071.3(CBS):c.304A>C (p.Lys102Gln) (rs34040148)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000178036 SCV000167573 benign not specified 2013-01-20 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000178036 SCV000230022 benign not specified 2015-02-03 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000178036 SCV000268833 benign not specified 2015-07-16 criteria provided, single submitter clinical testing p.Lys102Gln in exon 4 of CBS: This variant is not expected to have clinical sign ificance because it has been identified in 4% (415/10368) of African chromosomes by the Exome Aggregation Consortium (ExAC,; dbSNP rs34040148).
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224394 SCV000281546 benign not provided 2015-05-21 criteria provided, single submitter clinical testing
Invitae RCV000233317 SCV000283386 benign Classic homocystinuria 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000233317 SCV000436230 likely benign Classic homocystinuria 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 determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Ambry Genetics RCV000621680 SCV000738386 benign Cardiovascular phenotype 2015-08-25 criteria provided, single submitter clinical testing
SIB Swiss Institute of Bioinformatics RCV000233317 SCV000803598 benign Classic homocystinuria 2018-05-31 criteria provided, single submitter curation This variant is interpreted as a Benign, for Homocystinuria due to cystathionine beta-synthase deficiency, in Autosomal Recessive manner. The following ACMG Tag(s) were applied: BS1 => Allele frequency is greater than expected for disorder. BS2 => Observed in a healthy adult individual for a recessive (homozygous), dominant (heterozygous), or X-linked (hemizygous) disorder, with full penetrance expected at an early age. BP4 => Multiple lines of computational evidence suggest no impact on gene or gene product (conservation, evolutionary, splicing impact, etc.).
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000178036 SCV000883541 benign not specified 2018-11-09 criteria provided, single submitter clinical testing

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