ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.16010A>G (p.Asn5337Ser)

gnomAD frequency: 0.00004  dbSNP: rs752924679
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000185337 SCV000238224 likely benign not provided 2021-05-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000557356 SCV000642717 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-05-16 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000185337 SCV003821032 uncertain significance not provided 2020-05-27 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003150080 SCV003838663 uncertain significance Cardiomyopathy 2021-11-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000185337 SCV004042112 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing TTN: BP4

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