Submissions for variant NM_003977.4(AIP):c.100-18C>T

gnomAD frequency: 0.00359  dbSNP: rs202156895

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000731868	SCV000859730	uncertain significance	not provided	2018-03-07	criteria provided, single submitter	clinical testing
GeneDx	RCV000731868	SCV001757141	likely benign	not provided	2021-01-11	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 26792934, 25184284, 21753072, 23038625, 26186299)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000731868	SCV002328457	benign	not provided	2025-02-04	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000731868	SCV002497140	likely benign	not provided	2025-02-01	criteria provided, single submitter	clinical testing	AIP: BS2
Sema4, Sema4	RCV002259014	SCV002535428	benign	Hereditary cancer-predisposing syndrome	2020-11-06	criteria provided, single submitter	curation
Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS)	RCV003233033	SCV003930420	benign	Pituitary adenoma 5, multiple types	2023-05-10	criteria provided, single submitter	research
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000731868	SCV001742325	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000731868	SCV001808762	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000731868	SCV001926533	likely benign	not provided		no assertion criteria provided	clinical testing