ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.34982T>C (p.Val11661Ala)

gnomAD frequency: 0.00009  dbSNP: rs199561793
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000726155 SCV000237117 likely benign not provided 2018-09-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000551399 SCV000643035 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2018-01-09 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000726155 SCV000701264 uncertain significance not provided 2017-10-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000726155 SCV002822752 uncertain significance not provided 2025-01-01 criteria provided, single submitter clinical testing TTN: PM2, BP4
Revvity Omics, Revvity RCV000726155 SCV003825564 uncertain significance not provided 2022-04-12 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003987429 SCV004804300 uncertain significance not specified 2024-01-08 criteria provided, single submitter clinical testing

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