Submissions for variant NM_001807.6(CEL):c.1834G>C (p.Ala612Pro)

dbSNP: rs1322454680

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002568169	SCV003681507	uncertain significance	Inborn genetic diseases	2021-10-06	criteria provided, single submitter	clinical testing	The c.1843G>C (p.A615P) alteration is located in exon 11 (coding exon 11) of the CEL gene. This alteration results from a G to C substitution at nucleotide position 1843, causing the alanine (A) at amino acid position 615 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen	RCV001529789	SCV004156678	benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	CEL: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV001529789	SCV005226018	likely benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529789	SCV001743868	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001529789	SCV001965185	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001796590	SCV002036080	benign	not specified		no assertion criteria provided	clinical testing