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

gnomAD frequency: 0.00004  dbSNP: rs4252582

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham 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 Laboratory Services, Illumina	RCV000346481	SCV000367280	benign	Myofibrillar myopathy 2	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 Laboratory Services, 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 Laboratory Services, 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	2024-01-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000617335	SCV000735955	benign	Cardiovascular phenotype	2017-07-19	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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.
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
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000037219	SCV001951589	benign	not specified		no assertion criteria provided	clinical testing