ClinVar Miner

Submissions for variant NM_001018005.2(TPM1):c.603G>C (p.Thr201=) (rs397516485)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036628 SCV000060283 likely benign not specified 2012-09-26 criteria provided, single submitter clinical testing Thr201Thr in exon 6B 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 with in the splice consensus sequence. Thr201Thr in exon 6B of TPM1 (allele frequen cy = n/a)
Invitae RCV000541531 SCV000623808 likely benign Hypertrophic cardiomyopathy 2017-06-10 criteria provided, single submitter clinical testing

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