Submissions for variant NM_001111125.3(IQSEC2):c.1402-15dup

dbSNP: rs781861463

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000952550	SCV001099064	benign	Intellectual disability, X-linked 1	2024-09-08	criteria provided, single submitter	clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana	RCV000952550	SCV001369465	likely benign	Intellectual disability, X-linked 1	2019-10-01	criteria provided, single submitter	clinical testing	This variant was classified as: Likely benign. The following ACMG criteria were applied in classifying this variant: BS2,BP4. This variant was detected in hemizygous state.
GeneDx	RCV001585885	SCV001818099	likely benign	not provided	2023-04-28	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
Athena Diagnostics	RCV004997531	SCV005621850	likely benign	not specified	2024-03-04	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001585885	SCV001926694	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001585885	SCV001969830	likely benign	not provided		no assertion criteria provided	clinical testing