ClinVar Miner

Submissions for variant NM_001018005.2(TPM1):c.115-316G>A (rs397516491)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000777962 SCV000914063 likely benign Cardiomyopathy 2018-09-24 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000036635 SCV000060290 likely benign not specified 2011-11-09 criteria provided, single submitter clinical testing Glu40Glu in exon 1 of TPM1: This variant does not change an amino acid and does not affect the splice consensus sequence. This makes a disease causing role very unlikely.

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