ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.58191G>A (p.Thr19397=)

gnomAD frequency: 0.00003  dbSNP: rs370091658
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000518231 SCV000616111 likely benign not specified 2017-06-29 criteria provided, single submitter clinical testing
Eurofins NTD LLC (GA) RCV000727307 SCV000707458 uncertain significance not provided 2017-04-05 criteria provided, single submitter clinical testing
Invitae RCV000727307 SCV001010656 likely benign not provided 2018-08-23 criteria provided, single submitter clinical testing
Invitae RCV001435776 SCV001638602 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2021-11-08 criteria provided, single submitter clinical testing

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