ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.2662G>A (p.Asp888Asn)

gnomAD frequency: 0.00002  dbSNP: rs759686739
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Total submissions: 3
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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 RCV000852944 SCV000995690 likely benign Cardiomyopathy 2019-03-15 criteria provided, single submitter clinical testing
Baylor Genetics RCV001331625 SCV001523707 uncertain significance Early-onset myopathy with fatal cardiomyopathy 2020-02-25 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV001585794 SCV001813367 likely benign not provided 2019-10-11 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge

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