ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.74112T>C (p.Ser24704=) (rs397517697)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000040595 SCV000064286 likely benign not specified 2011-11-14 criteria provided, single submitter clinical testing Ser22136Ser in exon 275 of TTN: This variant does not change an amino acid and d oes not affect the splice consensus sequence. This makes a disease causing role very unlikely. Ser22136Ser in exon 275 of TTN (allele frequency = n/a)
Ambry Genetics RCV000618125 SCV000735589 likely benign Cardiovascular phenotype 2016-11-03 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV000934059 SCV001079771 likely benign not provided 2019-01-02 criteria provided, single submitter clinical testing

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