ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.97579G>A (p.Gly32527Ser)

gnomAD frequency: 0.00006  dbSNP: rs762160311
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000242952 SCV000318614 uncertain significance Cardiovascular phenotype 2013-05-20 criteria provided, single submitter clinical testing There is insufficient or conflicting evidence for classification of this alteration.
GeneDx RCV001561673 SCV001784316 likely benign not provided 2020-07-15 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798751 SCV002043083 uncertain significance Cardiomyopathy 2021-05-05 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001561673 SCV003827881 uncertain significance not provided 2022-09-01 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001561673 SCV004225779 uncertain significance not provided 2023-02-27 criteria provided, single submitter clinical testing

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