Submissions for variant NM_178012.5(TUBB2B):c.609C>T (p.Asp203=)

gnomAD frequency: 0.00411  dbSNP: rs1054332

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000147841	SCV000169676	benign	not specified	2014-04-01	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago	RCV000147841	SCV000195315	benign	not specified	2014-03-13	criteria provided, single submitter	clinical testing
Invitae	RCV000949505	SCV001095763	likely benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000949505	SCV001146567	benign	not provided	2018-10-23	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002492472	SCV002796792	likely benign	Complex cortical dysplasia with other brain malformations 7	2021-10-21	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000949505	SCV002821347	benign	not provided	2022-11-01	criteria provided, single submitter	clinical testing	TUBB2B: BP4, BP7, BS1, BS2