ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.55692T>A (p.Pro18564=)

gnomAD frequency: 0.00003  dbSNP: rs200864020
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000040377 SCV000064068 likely benign not specified 2016-01-26 criteria provided, single submitter clinical testing p.Pro15996Pro in exon 236 of TTN: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 1/64708 Europea n chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstit ute.org; dbSNP rs200864020).
Eurofins Ntd Llc (ga) RCV000724558 SCV000228106 uncertain significance not provided 2015-02-18 criteria provided, single submitter clinical testing

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