Submissions for variant NM_031448.6(C19orf12):c.69G>A (p.Ala23=)

gnomAD frequency: 0.00414  dbSNP: rs201118405

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000229001	SCV000285680	benign	Hereditary spastic paraplegia 43	2024-01-29	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000295642	SCV000343299	benign	not specified	2016-06-30	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000277296	SCV000411387	likely benign	Neurodegeneration with brain iron accumulation 4	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.
GeneDx	RCV001090561	SCV000521858	benign	not provided	2019-09-27	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000277296	SCV000745296	likely benign	Neurodegeneration with brain iron accumulation 4	2017-06-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001090561	SCV001246172	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	C19orf12: BP4, BP7, BS2
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV001847954	SCV002106306	benign	Hereditary spastic paraplegia	2020-10-15	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001090561	SCV005206927	likely benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000277296	SCV000733871	likely benign	Neurodegeneration with brain iron accumulation 4		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000277296	SCV000745859	likely benign	Neurodegeneration with brain iron accumulation 4	2016-09-21	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000295642	SCV001809403	benign	not specified		no assertion criteria provided	clinical testing