Submissions for variant NM_001614.5(ACTG1):c.803-6C>T

gnomAD frequency: 0.00164  dbSNP: rs199600452

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000345689	SCV000341826	likely benign	not specified	2017-07-03	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000345689	SCV000710976	benign	not specified	2012-04-30	criteria provided, single submitter	clinical testing	803-6C>T in Intron 04 of ACTG1: This variant is not expected to have clinical si gnificance because it has been identified in 0.6% (24/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs141006614).
GeneDx	RCV000680715	SCV000808159	benign	not provided	2018-04-13	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001082028	SCV001015607	benign	Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2	2024-01-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002253372	SCV002524446	benign	Baraitser-winter syndrome 2	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002253371	SCV002524447	benign	Autosomal dominant nonsyndromic hearing loss 20	2021-12-05	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV001082028	SCV002812401	likely benign	Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2	2021-09-30	criteria provided, single submitter	clinical testing