ClinVar Miner

Submissions for variant NM_024334.3(TMEM43):c.763C>T (p.Leu255=) (rs761968722)

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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 RCV000825249 SCV000966534 likely benign not specified 2018-08-29 criteria provided, single submitter clinical testing The p.Leu255Leu variant in TMEM43 is classified as likely benign because it does not alter an amino acid residue, it is not located within the splice consensus sequence, and splice prediction algorithms do not predict a newly created splice site. ACMG/AMP Criteria applied: BP4, BP7, PM2.
Invitae RCV000862530 SCV001003045 likely benign not provided 2018-12-24 criteria provided, single submitter clinical testing
Color RCV001176023 SCV001339836 likely benign Cardiomyopathy 2020-02-04 criteria provided, single submitter clinical testing

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