Submissions for variant NM_001082971.2(DDC):c.436-12T>C

gnomAD frequency: 0.00650  dbSNP: rs144962948

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000609120	SCV001322022	likely benign	Deficiency of aromatic-L-amino-acid decarboxylase	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae	RCV000609120	SCV001727581	benign	Deficiency of aromatic-L-amino-acid decarboxylase	2024-02-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV002512118	SCV002821812	likely benign	not provided	2022-12-01	criteria provided, single submitter	clinical testing	DDC: BS2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000609120	SCV000734555	likely benign	Deficiency of aromatic-L-amino-acid decarboxylase		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001701396	SCV001922113	benign	not specified		no assertion criteria provided	clinical testing