ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.62137G>A (p.Asp20713Asn)

gnomAD frequency: 0.00004  dbSNP: rs1177521349
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001755992 SCV000719650 uncertain significance not provided 2021-10-04 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (Lek et al., 2016); Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function
Fulgent Genetics, Fulgent Genetics RCV002476356 SCV002780095 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 2021-09-24 criteria provided, single submitter clinical testing

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