Submissions for variant NM_000260.4(MYO7A):c.5835C>T (p.Leu1945=) (rs111033476)

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Total submissions: 6

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine	RCV000036207	SCV000059859	benign	not specified	2012-04-27	criteria provided, single submitter	clinical testing	Leu1945Leu in exon 42 of MYO7A: 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, has been identified in 0.9% (30/3396) of Africa n American chromosomes from a broad population by the NHLBI Exome sequencing pro ject (http://evs.gs.washington.edu/EVS/; dbSNP rs77469944).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics	RCV000036207	SCV000230564	benign	not specified	2015-03-06	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000278156	SCV000374475	likely benign	Deafness, autosomal recessive 2	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina	RCV000335511	SCV000374476	likely benign	Usher syndrome type 1	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina	RCV000406804	SCV000374477	likely benign	Deafness, autosomal dominant 11	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae	RCV000879812	SCV001022865	benign	not provided	2019-12-31	criteria provided, single submitter	clinical testing

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