ClinVar Miner

Submissions for variant NM_001018005.2(TPM1):c.27G>A (p.Gln9=) (rs397516365)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036323 SCV000059975 likely benign not specified 2013-09-20 criteria provided, single submitter clinical testing Gln9Gln in exon 1 of TPM1: This variant is not expected to have clinical signifi cance because it does not alter an amino acid residue and is not located within the splice consensus sequence. Gln9Gln in exon 1 of TPM1 (allele frequency = n/ a)
Ambry Genetics RCV000242458 SCV000318677 likely benign Cardiovascular phenotype 2017-09-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Illumina Clinical Services Laboratory,Illumina RCV000322090 SCV000393203 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000379127 SCV000393204 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000859222 SCV000749971 benign not provided 2019-01-28 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769475 SCV000900870 likely benign Cardiomyopathy 2017-09-05 criteria provided, single submitter clinical testing

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