ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.76889G>T (p.Gly25630Val)

gnomAD frequency: 0.00001  dbSNP: rs760386525
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000463072 SCV000542818 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-04-29 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003139631 SCV003818451 uncertain significance not provided 2020-08-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV003139631 SCV005188115 uncertain significance not provided criteria provided, single submitter not provided

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