ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.4671G>A (p.Lys1557=) (rs200601164)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, RCV000758033 SCV000564477 benign Cardiomyopathy 2016-12-15 reviewed by expert panel curation The filtering allele frequency of the c.4671G>A (p.Lys1557=) variant in the MYH7 gene is 0.16% (34/15896) of South Asian chromosomes by the Exome Aggregation Consortium (, 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).
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000035925 SCV000059576 likely benign not specified 2011-03-24 criteria provided, single submitter clinical testing Lys1557Lys (4671G>A) in exon 34 of MYH7: This variant has not been previously re ported in the literature nor identified by our laboratory. This variant is not e xpected to have clinical significance because it does not alter an amino acid re sidue and is not located near a splice junction.
Ambry Genetics RCV000617380 SCV000740178 likely benign Cardiovascular phenotype 2017-06-30 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Color RCV000758033 SCV000911655 benign Cardiomyopathy 2018-10-16 criteria provided, single submitter clinical testing
Invitae RCV000867951 SCV001009230 benign Hypertrophic cardiomyopathy 2019-12-31 criteria provided, single submitter clinical testing

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