ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.480C>T (p.Asn160=) (rs45500700)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000757527 SCV000885782 benign not provided 2017-09-29 criteria provided, single submitter clinical testing
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, RCV000758019 SCV000564503 benign Cardiomyopathy 2016-12-15 reviewed by expert panel curation The filtering allele frequency of the c.480C>T (p.Asn160=) variant in the MYH7 gene is 0.37% (49/10406) of African chromosomes by the Exome Aggregation Consortium (http://exac.broadinstitute.org), which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen Inherited Cardiomyopathy Expert Panel (BA1; PMID:29300372).
Color RCV000758019 SCV000911577 benign Cardiomyopathy 2018-04-20 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000302124 SCV000386323 likely benign Left ventricular noncompaction cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000356982 SCV000386324 likely benign Myosin storage myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000230355 SCV000386325 likely benign Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000298756 SCV000386326 likely benign Scapuloperoneal myopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000353891 SCV000386327 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000277881 SCV000386328 likely benign Myopathy, distal, 1 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000230355 SCV000284281 benign Hypertrophic cardiomyopathy 2017-12-26 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000035932 SCV000059583 benign not specified 2013-01-10 criteria provided, single submitter clinical testing Asn160Asn in exon 5 of MYH7: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue, is not located within t he splice consensus sequence and has been identified in 0.5% (24/4406) of Africa n American chromosomes from a broad population by the NHLBI Exome Sequencing Pro ject (http://evs.gs.washington.edu/EVS; dbSNP rs45500700). Asn160Asn in exon 5 of MYH7 (rs45500700; allele frequency = 0.5%, 24/4406) **
PreventionGenetics RCV000035932 SCV000303245 benign not specified criteria provided, single submitter clinical testing

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