ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.47766C>T (p.Thr15922=)

gnomAD frequency: 0.00002  dbSNP: rs757006832
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000731606 SCV000859450 uncertain significance not provided 2018-02-06 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000731606 SCV001474998 likely benign not provided 2020-04-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001452050 SCV001655699 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-10-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000731606 SCV004011270 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing TTN: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV004535847 SCV004709332 likely benign TTN-related disorder 2024-02-17 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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