ClinVar Miner

Submissions for variant NM_001289808.2(CRYAB):c.60C>T (p.Pro20=) (rs4252582)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000037219 SCV000060876 benign not specified 2013-01-23 criteria provided, single submitter clinical testing Pro20Pro in exon 1 of CRYAB: This variant is not expected to have clinical signi ficance because it has been identified in 8.0% (14/176) of Gujarati Indian chrom osomes from a broad population by the HapMap Project (dbSNP rs4252582).
Illumina Clinical Services Laboratory,Illumina RCV000346481 SCV000367280 benign Alpha-B crystallinopathy 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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Clinical Services Laboratory,Illumina RCV000400889 SCV000367281 benign Fatal infantile hypertonic myofibrillar myopathy 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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Clinical Services Laboratory,Illumina RCV000306933 SCV000367282 benign Cataract 16, multiple types 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). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
GeneDx RCV000037219 SCV000516839 benign not specified 2015-12-16 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 RCV000540724 SCV000659173 benign Dilated cardiomyopathy 1II 2020-12-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617335 SCV000735955 benign Cardiovascular phenotype 2017-07-19 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;In silico models in agreement (benign)
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769292 SCV000900670 benign Cardiomyopathy 2016-05-10 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528828 SCV001741234 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000037219 SCV001919497 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000037219 SCV001927812 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000037219 SCV001951589 benign not specified no assertion criteria provided clinical testing

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