Submissions for variant NM_001289808.2(CRYAB):c.324+4T>G

gnomAD frequency: 0.26871  dbSNP: rs11603779

Total submissions: 17

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000037213	SCV000060870	benign	not specified	2012-04-10	criteria provided, single submitter	clinical testing
GeneDx	RCV000037213	SCV000168044	benign	not specified	2013-12-27	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.
PreventionGenetics, part of Exact Sciences	RCV000037213	SCV000308509	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000252961	SCV000317457	benign	Cardiovascular phenotype	2015-03-11	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Illumina Laboratory Services, Illumina	RCV000308725	SCV000367265	benign	Fatal infantile hypertonic myofibrillar myopathy	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina	RCV000363435	SCV000367266	benign	Myofibrillar Myopathy, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000268709	SCV000367267	benign	Cataract 16 multiple types	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Athena Diagnostics Inc	RCV000037213	SCV000613025	benign	not specified	2017-07-21	criteria provided, single submitter	clinical testing
Invitae	RCV001515051	SCV001723038	benign	Dilated cardiomyopathy 1II	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000268709	SCV001876336	benign	Cataract 16 multiple types	2021-07-30	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001659955	SCV001876337	benign	Myofibrillar myopathy 2	2021-07-30	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000308725	SCV001876338	benign	Fatal infantile hypertonic myofibrillar myopathy	2021-07-30	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000037213	SCV003929261	benign	not specified	2023-04-04	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000037213	SCV001740688	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000037213	SCV001924363	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000037213	SCV001928065	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000037213	SCV001976300	benign	not specified		no assertion criteria provided	clinical testing