ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.2236G>A (p.Asp746Asn) (rs36090425)

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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 RCV000036081 SCV000059733 benign not specified 2017-10-05 criteria provided, single submitter clinical testing Variant in 2.1% (506/23574) of African chromosomes by the Genome Aggregation Dat abase (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs36090425).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000036081 SCV000707296 benign not specified 2017-04-04 criteria provided, single submitter clinical testing
GeneDx RCV000954644 SCV000714447 benign not provided 2018-06-25 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26969326)
Invitae RCV000954644 SCV001101289 benign not provided 2020-12-04 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001112683 SCV001270369 likely benign Deafness, autosomal recessive 2 2017-04-28 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 RCV001112684 SCV001270370 benign Deafness, autosomal dominant 11 2017-04-28 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 rule this variant out of causing disease. Therefore, this variant is classified as benign.
Illumina Clinical Services Laboratory,Illumina RCV001112685 SCV001270371 benign Usher syndrome type 1 2017-04-28 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 rule this variant out of causing disease. Therefore, this variant is classified as benign.
Natera, Inc. RCV001276687 SCV001463195 benign Usher syndrome, type 1B 2020-04-16 no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000954644 SCV001923577 likely benign not provided no assertion criteria provided clinical testing

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