ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.65566G>A (p.Ala21856Thr)

gnomAD frequency: 0.00002  dbSNP: rs752176305
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000643247 SCV000764934 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-12-23 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003139988 SCV003824895 uncertain significance not provided 2023-09-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003139988 SCV004033812 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing TTN: BP4

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