ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.75342T>C (p.Asp25114=)

gnomAD frequency: 0.00001  dbSNP: rs1707914737
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001434732 SCV001637544 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2020-10-08 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003136075 SCV003821210 uncertain significance not provided 2019-11-08 criteria provided, single submitter clinical testing

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