ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.16464A>C (p.Lys5488Asn)

gnomAD frequency: 0.00002  dbSNP: rs760521859
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
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego RCV000852910 SCV000995650 likely benign Cardiomyopathy 2019-01-24 criteria provided, single submitter clinical testing
GeneDx RCV001567254 SCV001790906 likely benign not provided 2019-04-01 criteria provided, single submitter clinical testing

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