ClinVar Miner

Submissions for variant NM_145046.4(CALR3):c.850G>A (p.Asp284Asn) (rs10404156)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000621757 SCV000739845 likely benign Cardiovascular phenotype 2012-12-05 criteria provided, single submitter clinical testing
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172741 SCV000054857 benign not specified 2013-06-24 criteria provided, single submitter research
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000429817 SCV000511698 benign not provided 2017-02-07 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000461036 SCV000745274 benign Familial hypertrophic cardiomyopathy 19 2015-09-21 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000461036 SCV000743856 benign Familial hypertrophic cardiomyopathy 19 2016-10-04 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000429817 SCV000699945 benign not provided 2017-08-17 criteria provided, single submitter clinical testing Variant summary: The CALR3 c.850G>A (p.Asp284Asn) variant involves the alteration of a non-conserved nucleotide. 4/4 in silico tools predict benign outcome for this variant (SNPsandGO not captured due to low reliability index). This variant was found in 204/121410 control chromosomes (4 homozygotes) from ExAC, predominantly observed in the African subpopulation at a frequency of 0.017782 (185/10404). This frequency is about 711 times the estimated maximal expected allele frequency of a pathogenic CALR3 variant (0.000025), suggesting this is likely a benign polymorphism found primarily in the populations of African origin. In addition, multiple clinical diagnostic laboratories/reputable databases in ClinVar have classified this variant as benign. To our knowledge, this variant has not been reported in affected individuals in literature. Taken together, this variant is classified as benign.
Invitae RCV000461036 SCV000561626 benign Familial hypertrophic cardiomyopathy 19 2017-08-29 criteria provided, single submitter clinical testing

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