ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.14536G>A (p.Ala4846Thr)

gnomAD frequency: 0.00002  dbSNP: rs752150323
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000467209 SCV000543125 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-12-07 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769087 SCV000900460 uncertain significance Cardiomyopathy 2020-03-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV001335354 SCV001528485 uncertain significance Myopathy, myofibrillar, 9, with early respiratory failure 2018-02-13 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV001591064 SCV001816298 likely benign not provided 2021-10-05 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26582918)
Revvity Omics, Revvity RCV001591064 SCV003824209 uncertain significance not provided 2021-04-16 criteria provided, single submitter clinical testing

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