ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.17346C>T (p.Asn5782=)

gnomAD frequency: 0.00001  dbSNP: rs535281449
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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) RCV000154092 SCV000203741 uncertain significance not provided 2014-03-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001078810 SCV001014913 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-11-25 criteria provided, single submitter clinical testing

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