Submissions for variant NM_001113491.2(SEPTIN9):c.1573+9C>T

gnomAD frequency: 0.00515  dbSNP: rs148975193

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000291977	SCV000406985	benign	Amyotrophic neuralgia	2018-01-12	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000958437	SCV001105280	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000958437	SCV001831076	benign	not provided	2020-06-16	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000291977	SCV002514386	benign	Amyotrophic neuralgia	2021-12-05	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000958437	SCV005252499	benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV001700060	SCV001918186	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000958437	SCV001930419	likely benign	not provided		no assertion criteria provided	clinical testing