ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.59917G>A (p.Asp19973Asn)

gnomAD frequency: 0.00002  dbSNP: rs148353350
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000527497 SCV000643451 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-08-11 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003330777 SCV004038604 uncertain significance not specified 2023-08-19 criteria provided, single submitter clinical testing

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