Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000365750 | SCV000335320 | uncertain significance | not provided | 2015-09-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000466790 | SCV000543036 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-10-23 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000620064 | SCV000735799 | uncertain significance | Cardiovascular phenotype | 2019-05-09 | criteria provided, single submitter | clinical testing | The c.53471A>G (p.Y17824C) alteration is located in exon 154 (coding exon 153) of the TTN gene. This alteration results from a A to G substitution at nucleotide position 53471, causing the tyrosine (Y) at amino acid position 17824 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Ce |
RCV000365750 | SCV001152730 | uncertain significance | not provided | 2017-08-01 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002502106 | SCV002784498 | 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 | 2021-11-03 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000365750 | SCV003826618 | uncertain significance | not provided | 2022-08-16 | criteria provided, single submitter | clinical testing |