ClinVar Miner

Submissions for variant NM_001018005.2(TPM1):c.684T>C (p.Leu228=) (rs397516384)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036353 SCV000060005 likely benign not specified 2011-06-16 criteria provided, single submitter clinical testing Leu228Leu in exon 7 of TPM1: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located near a splice junction.
Invitae RCV000870906 SCV001012477 likely benign Hypertrophic cardiomyopathy 2019-12-31 criteria provided, single submitter clinical testing
Color RCV001179080 SCV001343670 likely benign Cardiomyopathy 2018-10-30 criteria provided, single submitter clinical testing

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