Submissions for variant NM_006087.4(TUBB4A):c.915G>A (p.Pro305=)

gnomAD frequency: 0.00277  dbSNP: rs149903666

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000193302	SCV000249312	uncertain significance	not specified	2015-02-18	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000383118	SCV000414890	benign	Hypomyelinating leukodystrophy 6	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina	RCV000288736	SCV000414891	benign	Torsion dystonia 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 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	RCV000383118	SCV000646868	benign	Hypomyelinating leukodystrophy 6	2024-01-22	criteria provided, single submitter	clinical testing
GeneDx	RCV001709516	SCV001937614	benign	not provided	2020-08-17	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001709516	SCV002546045	likely benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	TUBB4A: BP4, BP7