ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.80530del (p.Ser26844fs)

dbSNP: rs2154164929
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528807 SCV001741189 likely pathogenic not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001528807 SCV001929367 pathogenic not provided no assertion criteria provided clinical testing

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