Submissions for variant NM_001145809.2(MYH14):c.3468-3C>T (rs78192108)

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine	RCV000037042	SCV000060698	benign	not specified	2012-04-30	criteria provided, single submitter	clinical testing	3468-3C>T in Intron 27 of MYH14: This variant is not expected to have clinical s ignificance because it has been identified in 2.5% (165/6628) of European Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS; dbSNP rs78192108).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	RCV000037042	SCV000228386	benign	not specified	2015-02-09	criteria provided, single submitter	clinical testing
PreventionGenetics,PreventionGenetics	RCV000037042	SCV000306864	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000144089	SCV000414421	benign	Deafness, autosomal dominant 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.
GeneDx	RCV000037042	SCV000730005	benign	not specified	2017-11-21	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.
Athena Diagnostics Inc	RCV000992390	SCV001144627	benign	not provided	2019-03-13	criteria provided, single submitter	clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences	RCV000144089	SCV000189163	untested	Deafness, autosomal dominant 4		no assertion provided	not provided	Converted during submission to not provided.