ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.2283_2288del (p.Lys762_Ala763del) (rs727503701)

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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 RCV000152519 SCV000201706 likely benign not specified 2020-09-22 criteria provided, single submitter clinical testing The p.Lys762_Ala763del variant in TTN is classified as likely benign because it has been identified in 0.058% (18/30614) of South Asian chromosomes by gnomAD ( ACMG/AMP Criteria applied: BS1.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000725247 SCV000335260 uncertain significance not provided 2015-09-11 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000791209 SCV000930491 uncertain significance TTN-Related Disorders 2019-04-27 criteria provided, single submitter clinical testing

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