Submissions for variant NM_000208.4(INSR):c.653-23TC[9]

dbSNP: rs3835070

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000177018	SCV000228822	benign	not specified	2017-10-23	criteria provided, single submitter	clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000177018	SCV000257643	benign	not specified	2015-07-10	criteria provided, single submitter	clinical testing
GeneDx	RCV001610490	SCV001838829	benign	not provided	2021-06-09	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001610490	SCV002047831	benign	not provided	2020-12-08	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000177018	SCV002066014	benign	not specified	2020-06-04	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001610490	SCV002405053	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002500495	SCV002800604	benign	Insulin-resistant diabetes mellitus AND acanthosis nigricans; Hyperinsulinism due to INSR deficiency; Leprechaunism syndrome; Rabson-Mendenhall syndrome	2022-01-24	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000177018	SCV001744440	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000177018	SCV001970966	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001610490	SCV002036272	likely benign	not provided		no assertion criteria provided	clinical testing