ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.24390T>C (p.Asp8130=)

gnomAD frequency: 0.00001  dbSNP: rs1158674912
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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) RCV000730577 SCV000858325 uncertain significance not provided 2017-11-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003117528 SCV003788906 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-05-20 criteria provided, single submitter clinical testing

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