ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.30513A>T (p.Glu10171Asp)

gnomAD frequency: 0.00017  dbSNP: rs577066020
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724662 SCV000225130 uncertain significance not provided 2017-08-25 criteria provided, single submitter clinical testing
GeneDx RCV000724662 SCV000237059 likely benign not provided 2021-05-06 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV000458510 SCV000543115 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-12-27 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000724662 SCV003821745 uncertain significance not provided 2020-01-03 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000724662 SCV004225888 uncertain significance not provided 2023-02-24 criteria provided, single submitter clinical testing

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