ClinVar Miner

Submissions for variant NM_033118.4(MYLK2):c.102A>G (p.Lys34=)

gnomAD frequency: 0.00101  dbSNP: rs28763880
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000039776 SCV000063465 likely benign not specified 2016-01-07 criteria provided, single submitter clinical testing p.Lys34Lys in exon 3 of MYLK2: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 0.2% (36/16510) of South Asian chromosomes including 2 homozygous individuals by the Exome Aggregat ion Consortium (ExAC, http://exac.broadinstitute.org/; dbSNP rs28763880).
Invitae RCV000468992 SCV000556761 benign Hypertrophic cardiomyopathy 1 2024-01-13 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170849 SCV001333469 benign Cardiomyopathy 2018-01-11 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000039776 SCV001478752 benign not specified 2021-01-28 criteria provided, single submitter clinical testing
GeneDx RCV001642566 SCV001857843 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002381316 SCV002693364 likely benign Inborn genetic diseases 2022-05-30 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
CeGaT Center for Human Genetics Tuebingen RCV001642566 SCV004152563 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing MYLK2: BP4, BP7, BS2

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