Genetic Medico-Diagnostic Laboratory Genica - Submitter

Genetic Medico-Diagnostic Laboratory Genica (Genetic Medico Diagnostic Laboratory Genica), GMDL Genica

General information

Genetic Medico-Diagnostic Laboratory Genica, GMDL Genica
Genetic Medico Diagnostic Laboratory Genica
84 Ami Bue str.
Sofia
Bulgaria - 1463
https://genica.bg/en
Organization ID: 506490

Assertion criteria

Level: Assertion criteria provided

ACMG Guidelines, 2015

Summary of submissions to ClinVar

Total submissions: 13

Gene

Gene	Submissions	Last Updated
ARG1	2	Mar 9, 2022
CARS1	2	Mar 24, 2022
EPHA4	1	May 12, 2023
GTPBP3	2	Nov 16, 2022
MED23	2	Mar 9, 2022
MN1	1	May 12, 2023
NARS1	2	Mar 31, 2022
POLG	2	Nov 16, 2022
POLGARF	2	Nov 16, 2022
TTR	1	Oct 24, 2022

Condition

Name	Submissions	Last Updated
Arginase deficiency	2	Mar 9, 2022
Familial amyloid neuropathy	1	Oct 24, 2022
Hypertrophic cardiomyopathy	4	Nov 16, 2022
Microcephaly, developmental delay, and brittle hair syndrome	2	Mar 24, 2022
Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities	2	Mar 31, 2022
See cases	2	May 12, 2023

ClinVar