ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.24108G>A (p.Ser8036=)

gnomAD frequency: 0.00014  dbSNP: rs752974196
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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) RCV000729418 SCV000857077 uncertain significance not provided 2017-09-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001487044 SCV001691527 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-05-15 criteria provided, single submitter clinical testing

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