ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.17319C>T (p.Asp5773=)

gnomAD frequency: 0.00002  dbSNP: rs760724229
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000547616 SCV000642739 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-28 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170645 SCV001333239 benign Cardiomyopathy 2017-11-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840644 SCV002100016 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840645 SCV002100017 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840646 SCV002100018 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840643 SCV002100019 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001726228 SCV003821808 uncertain significance not provided 2022-02-14 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001700143 SCV001918900 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001726228 SCV001963537 likely benign not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004537981 SCV004719727 likely benign TTN-related disorder 2019-06-11 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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