ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.16310G>A (p.Ser5437Asn)

gnomAD frequency: 0.00004  dbSNP: rs794727755
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000179113 SCV000231310 uncertain significance not provided 2014-11-14 criteria provided, single submitter clinical testing
Invitae RCV000643531 SCV000765218 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-09-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002492786 SCV002782660 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2022-03-14 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000179113 SCV003818416 uncertain significance not provided 2021-12-03 criteria provided, single submitter clinical testing
GeneDx RCV000179113 SCV004031039 uncertain significance not provided 2023-03-09 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function

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