ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.94145G>A (p.Arg31382His)

gnomAD frequency: 0.00002  dbSNP: rs775769975
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003487194 SCV004240180 likely benign Cardiomyopathy 2023-01-18 criteria provided, single submitter clinical testing

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