ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.36532+19A>G

gnomAD frequency: 0.03369  dbSNP: rs10204913
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000831878 SCV000973631 benign not provided 2018-06-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002067501 SCV002405928 benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-02-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000831878 SCV005239093 benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV001700312 SCV001924439 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001700312 SCV001974840 benign not specified no assertion criteria provided clinical testing

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