ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.88106G>T (p.Gly29369Val)

gnomAD frequency: 0.00005  dbSNP: rs55898359
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176837 SCV000228590 uncertain significance not provided 2014-11-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001089335 SCV001009686 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-12-23 criteria provided, single submitter clinical testing

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