ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.72906T>A (p.Ala24302=)

gnomAD frequency: 0.00013  dbSNP: rs773886758
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000327146 SCV000341920 benign not specified 2016-05-12 criteria provided, single submitter clinical testing
GeneDx RCV001705428 SCV000515168 likely benign not provided 2018-05-22 criteria provided, single submitter clinical testing
Invitae RCV000643622 SCV000765309 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-01-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840477 SCV002100234 benign Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840478 SCV002100236 benign Myopathy, myofibrillar, 9, with early respiratory failure 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840479 SCV002100237 benign Early-onset myopathy with fatal cardiomyopathy 2021-09-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001840476 SCV002100238 benign Tibial muscular dystrophy 2021-09-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002338851 SCV002638535 likely benign Cardiovascular phenotype 2019-10-21 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001705428 SCV004562179 benign not provided 2023-09-28 criteria provided, single submitter clinical testing

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