ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.48509A>G (p.Asn16170Ser)

gnomAD frequency: 0.00026  dbSNP: rs370809363
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704900 SCV000237234 likely benign not provided 2020-10-08 criteria provided, single submitter clinical testing
Invitae RCV000460733 SCV000542557 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-12-17 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769000 SCV000900373 likely benign Cardiomyopathy 2021-11-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002265671 SCV002547645 uncertain significance not specified 2022-05-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002415795 SCV002729120 likely benign Cardiovascular phenotype 2019-10-07 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Revvity Omics, Revvity RCV001704900 SCV003818400 uncertain significance not provided 2019-06-26 criteria provided, single submitter clinical testing

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