ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.98524G>A (p.Ala32842Thr)

gnomAD frequency: 0.00003  dbSNP: rs199647622
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000172179 SCV000051103 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV000537887 SCV000643990 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-06-20 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000172179 SCV001714027 uncertain significance not provided 2020-09-02 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001797658 SCV002041820 uncertain significance not specified 2021-11-15 criteria provided, single submitter clinical testing

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