ClinVar Miner

Submissions for variant NM_000363.5(TNNI3):c.132G>C (p.Ser44=) (rs727504941)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000156340 SCV000206058 likely benign not specified 2014-02-21 criteria provided, single submitter clinical testing Ser44Ser in exon 5 of TNNI3: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. Ser44Ser in exon 4 of TNNI3 (allele frequency = n/a)
GeneDx RCV000156340 SCV000514919 likely benign not specified 2017-10-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color Health, Inc RCV000771902 SCV000904666 likely benign Cardiomyopathy 2018-09-28 criteria provided, single submitter clinical testing
Invitae RCV000868030 SCV001009315 likely benign Hypertrophic cardiomyopathy 2020-09-23 criteria provided, single submitter clinical testing

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