ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.87496G>A (p.Gly29166Ser)

gnomAD frequency: 0.00001  dbSNP: rs200263009
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000172215 SCV000051118 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003150039 SCV003838525 uncertain significance Cardiomyopathy 2021-10-22 criteria provided, single submitter clinical testing

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