ClinVar Miner

Submissions for variant NM_003919.3(SGCE):c.391-3T>C

gnomAD frequency: 0.08209  dbSNP: rs17166384
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000178203 SCV000230220 benign not specified 2014-09-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000178203 SCV000309870 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000394405 SCV000470671 benign Myoclonic dystonia 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 rule this variant out of causing disease. Therefore, this variant is classified as benign.
Invitae RCV000394405 SCV000638415 benign Myoclonic dystonia 11 2024-02-01 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000992966 SCV001145594 benign not provided 2019-01-18 criteria provided, single submitter clinical testing
GeneDx RCV000992966 SCV001864709 benign not provided 2018-07-05 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30849405, 27884173, 15728306)

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