ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.5651G>A (p.Ser1884Asn)

gnomAD frequency: 0.00001  dbSNP: rs749151809
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000730576 SCV000858324 uncertain significance not provided 2017-11-22 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003486925 SCV004239974 likely benign Cardiomyopathy 2022-11-24 criteria provided, single submitter clinical testing

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