ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.18843A>G (p.Ser6281=)

gnomAD frequency: 0.00008  dbSNP: rs755958191
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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 RCV001393917 SCV001595594 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-12-18 criteria provided, single submitter clinical testing
GeneDx RCV000865702 SCV001751496 likely benign not provided 2019-08-06 criteria provided, single submitter clinical testing

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