ClinVar Miner

Submissions for variant NM_024334.2(TMEM43):c.402C>T (p.Thr134=) (rs370422391)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000777831 SCV000913830 likely benign Cardiomyopathy 2018-10-16 criteria provided, single submitter clinical testing
Invitae RCV000531859 SCV000642098 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 5 2017-07-31 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000220546 SCV000270923 likely benign not specified 2017-03-09 criteria provided, single submitter clinical testing p.Thr134Thr in Exon 5 of TMEM43: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 8/16512 South Asi an chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinsti tute.org; dbSNP rs370422391).

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