ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.12564C>T (p.Ala4188=)

dbSNP: rs547338168
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000867254 SCV001008459 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-12-13 criteria provided, single submitter clinical testing
GeneDx RCV001712813 SCV001940440 likely benign not provided 2018-11-09 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798997 SCV002042361 likely benign Cardiomyopathy 2019-05-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002453976 SCV002613533 likely benign Cardiovascular phenotype 2020-01-09 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.
Fulgent Genetics, Fulgent Genetics RCV002507499 SCV002805442 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2021-07-12 criteria provided, single submitter clinical testing

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