ClinVar Miner

Submissions for variant NM_133379.5(TTN):c.14015C>T (p.Ala4672Val)

gnomAD frequency: 0.00005  dbSNP: rs551658963
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000172437 SCV000055089 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
GeneDx RCV000172437 SCV001776482 likely benign not provided 2019-01-17 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000172437 SCV001799501 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001699141 SCV001917912 benign not specified no assertion criteria provided clinical testing

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