ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.1343+8G>T (rs2276278)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000601954 SCV000731355 likely benign not specified 2016-12-08 criteria provided, single submitter clinical testing c.1343+8G>T in intron 12 of MYO7A: This variant is not expected to have clinical significance because it is not located within the splice consensus sequence. I t has been identified in 6/66590 European chromosomes by the Exome Aggregation C onsortium (ExAC, http://exac.broadinstitute.org; dbSNP rs2276278).
Illumina Clinical Services Laboratory,Illumina RCV001113754 SCV001271547 uncertain significance Usher syndrome type 1 2017-11-28 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV001113755 SCV001271548 uncertain significance Deafness, autosomal dominant 11 2017-11-28 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV001113756 SCV001271549 uncertain significance Deafness, autosomal recessive 2 2017-11-28 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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