Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000176503 | SCV000228171 | uncertain significance | not provided | 2015-05-06 | criteria provided, single submitter | clinical testing | |
Centre for Mendelian Genomics, |
RCV001198541 | SCV001369519 | likely benign | Tibial muscular dystrophy | 2019-07-09 | criteria provided, single submitter | clinical testing | This variant was classified as: Likely benign. The following ACMG criteria were applied in classifying this variant: PP3,BP1,BS2. |
Mayo Clinic Laboratories, |
RCV000176503 | SCV001715784 | uncertain significance | not provided | 2020-07-23 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000176503 | SCV003820204 | uncertain significance | not provided | 2021-07-07 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000176503 | SCV001923177 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Diagnostic Laboratory, |
RCV000176503 | SCV001962946 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Genetics and Genomics Program, |
RCV004732744 | SCV005367914 | uncertain significance | Catecholaminergic polymorphic ventricular tachycardia | no assertion criteria provided | research | The c.3988C>T missense variant in TTN is present in gnomAD with an allele count of 33 and no homozygous individuals reported (PM2). ACMG codes: PM2, PP2, BP1. |