ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.10727G>A (p.Arg3576Gln)

gnomAD frequency: 0.00001  dbSNP: rs1060499769
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000454183 SCV000537984 likely pathogenic Abnormal brain morphology criteria provided, single submitter research
Illumina Laboratory Services, Illumina RCV001151475 SCV001312605 uncertain significance Autosomal recessive ataxia, Beauce type 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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001151476 SCV001312606 uncertain significance Emery-Dreifuss muscular dystrophy 4, autosomal dominant 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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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