ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.74840G>A (p.Arg24947His)

gnomAD frequency: 0.00001  dbSNP: rs765512476
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre RCV000171314 SCV000221511 likely pathogenic not provided criteria provided, single submitter research
Baylor Genetics RCV001330308 SCV001521953 uncertain significance Dilated cardiomyopathy 1G 2020-01-17 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV000171314 SCV001787968 likely benign not provided 2018-10-30 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 31589614)

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