ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.5156A>G (p.Tyr1719Cys) (rs77625410)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000036179 SCV000059831 benign not specified 2009-06-23 criteria provided, single submitter clinical testing
GeneDx RCV000036179 SCV000170594 benign not specified 2013-04-05 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 RCV000036179 SCV000229851 benign not specified 2015-02-06 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000271936 SCV000374423 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000677322 SCV000374424 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 RCV000367756 SCV000374425 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000036179 SCV000604426 benign not specified 2018-09-28 criteria provided, single submitter clinical testing
SIB Swiss Institute of Bioinformatics RCV000677322 SCV000803532 benign Usher syndrome type 1 2018-05-31 criteria provided, single submitter curation This variant is interpreted as a Benign, for Usher syndrome 1B, in Autosomal Recessive manner. The following ACMG Tag(s) were applied: BS1 => Allele frequency is greater than expected for disorder. BS2 => Observed in a healthy adult individual for a recessive (homozygous), dominant (heterozygous), or X-linked (hemizygous) disorder, with full penetrance expected at an early age. 6 homozygotes in ExAC.
Athena Diagnostics Inc RCV000755320 SCV001144668 benign not provided 2018-12-28 criteria provided, single submitter clinical testing

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