Submissions for variant NM_000260.4(MYO7A):c.4461C>T (p.Asn1487=) (rs56174006)

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine	RCV000036146	SCV000059798	benign	not specified	2011-03-25	criteria provided, single submitter	clinical testing	Asn1487Asn in exon 34 of MYO7A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located in a splice site and has been identified in 2% of cases.
GeneDx	RCV000036146	SCV000170592	benign	not specified	2012-09-06	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.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics	RCV000036146	SCV000229684	benign	not specified	2014-10-16	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000391381	SCV000374374	uncertain significance	Deafness, autosomal recessive 2	2018-01-12	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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Illumina Clinical Services Laboratory,Illumina	RCV000291934	SCV000374375	uncertain significance	Usher syndrome type 1	2018-01-12	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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Illumina Clinical Services Laboratory,Illumina	RCV000344591	SCV000374376	benign	Deafness, autosomal dominant 11	2018-01-12	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.
Invitae	RCV000959206	SCV001106103	benign	not provided	2020-12-06	criteria provided, single submitter	clinical testing
Nilou-Genome Lab	RCV000291934	SCV001653345	likely benign	Usher syndrome type 1	2021-05-18	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001273500	SCV001456611	benign	Usher syndrome, type 1B	2020-09-16	no assertion criteria provided	clinical testing
Clinical Genetics,Academic Medical Center	RCV000036146	SCV001924447	benign	not specified		no assertion criteria provided	clinical testing