ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.105608T>C (p.Val35203Ala)

gnomAD frequency: 0.00004  dbSNP: rs771136390
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000526551 SCV000642577 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-09-15 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000593816 SCV000704221 uncertain significance not provided 2016-12-07 criteria provided, single submitter clinical testing
GeneDx RCV000593816 SCV001782520 likely benign not provided 2020-09-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000593816 SCV002496563 uncertain significance not provided 2024-02-01 criteria provided, single submitter clinical testing TTN: PM2, BP4
Revvity Omics, Revvity RCV000593816 SCV003824205 uncertain significance not provided 2021-03-09 criteria provided, single submitter clinical testing

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