ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.691G>A (p.Ala231Thr)

gnomAD frequency: 0.00001  dbSNP: rs752452129
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000869186 SCV001010594 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-05-05 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003141880 SCV003821028 uncertain significance not provided 2019-07-10 criteria provided, single submitter clinical testing

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