ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.23925C>T (p.Ser7975=) (rs374879942)

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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 RCV000154974 SCV000204656 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing Ser6731Ser in exon 79 of TTN: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 1/3042 African Ameri can chromosomes from a broad population by the NHLBI Exome Sequencing Project (h ttp://evs.gs.washington.edu/EVS). Ser6731Ser in exon 79 of TTN (allele frequenc y = 0.03%, 1/3042) **
Invitae RCV000476615 SCV000555540 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-11-25 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000154974 SCV000616029 benign not specified 2016-10-29 criteria provided, single submitter clinical testing

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