ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.30283G>A (p.Ala10095Thr)

gnomAD frequency: 0.00004  dbSNP: rs201635835
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000226894 SCV000286564 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-04-29 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000730580 SCV000858328 uncertain significance not provided 2017-11-22 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170631 SCV001333222 uncertain significance Cardiomyopathy 2018-06-11 criteria provided, single submitter clinical testing
GeneDx RCV000730580 SCV001801074 likely benign not provided 2021-04-29 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000730580 SCV003824220 uncertain significance not provided 2021-05-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000730580 SCV005092154 uncertain significance not provided 2024-07-01 criteria provided, single submitter clinical testing TTN: PM2:Supporting

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