ClinVar Miner

Submissions for variant NM_006946.4(SPTBN2):c.1653+13C>T

gnomAD frequency: 0.00006  dbSNP: rs376349935
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000499733 SCV000597249 uncertain significance not specified 2017-05-17 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001105512 SCV001262483 uncertain significance Autosomal recessive spinocerebellar ataxia 14 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002060147 SCV002465030 likely benign not provided 2024-11-25 criteria provided, single submitter clinical testing

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