ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.78742A>C (p.Lys26248Gln)

dbSNP: rs1281337813
Minimum review status: Collection method:
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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
CeGaT Center for Human Genetics Tuebingen RCV001092236 SCV001248646 uncertain significance not provided 2022-03-01 criteria provided, single submitter clinical testing TTN: PM2, BP4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003396742 SCV004121940 uncertain significance not specified 2023-10-01 criteria provided, single submitter clinical testing

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