Submissions for variant NM_001614.5(ACTG1):c.918C>T (p.Tyr306=)

gnomAD frequency: 0.75861  dbSNP: rs1139405

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000037126	SCV000060783	benign	not specified	2012-05-07	criteria provided, single submitter	clinical testing	"Tyr306Tyr in Exon 05 of ACTG1: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 35.7% (1333/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequenc ing Project (http://evs.gs.washington.edu/EVS; dbSNP rs1139405)."
GeneDx	RCV000037126	SCV000516198	benign	not specified	2015-10-15	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001811255	SCV000602387	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Invitae	RCV001518482	SCV001727178	benign	Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001549225	SCV001769336	benign	Baraitser-winter syndrome 2	2021-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001549226	SCV001769337	benign	Autosomal dominant nonsyndromic hearing loss 20	2021-07-14	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000037126	SCV000150149	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000037126	SCV001741669	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000037126	SCV001960107	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000037126	SCV001969825	benign	not specified		no assertion criteria provided	clinical testing