ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.17910T>C (p.His5970=)

gnomAD frequency: 0.00001  dbSNP: rs1175537809
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 RCV002540846 SCV001057924 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2023-11-11 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000912805 SCV001475741 uncertain significance not provided 2019-11-06 criteria provided, single submitter clinical testing

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