ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.24045A>T (p.Ser8015=)

dbSNP: rs1060503946
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000734534 SCV000719300 uncertain significance not provided 2024-05-07 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Eurofins Ntd Llc (ga) RCV000734534 SCV000862684 uncertain significance not provided 2018-07-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001479953 SCV001684261 likely benign Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2024-07-30 criteria provided, single submitter clinical testing

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