ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.88194T>G (p.Ser29398=)

gnomAD frequency: 0.00001  dbSNP: rs1701745219
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001436648 SCV001639490 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-11-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002358978 SCV002661025 likely benign Cardiovascular phenotype 2020-07-07 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003738070 SCV004562413 likely benign not provided 2023-08-16 criteria provided, single submitter clinical testing

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