ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.4531G>A (p.Val1511Ile) (rs76675748)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000424295 SCV000290134 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000424295 SCV000510956 likely benign not provided 2017-02-15 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Ambry Genetics RCV000716131 SCV000846966 likely benign Seizures 2018-08-28 criteria provided, single submitter clinical testing Other strong data
CeGaT Praxis fuer Humangenetik Tuebingen RCV000424295 SCV001147250 likely benign not provided 2018-11-01 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001196745 SCV001367378 benign Dystonia; Global developmental delay; Optic atrophy; Nystagmus; Retinal dystrophy; Rod-cone dystrophy; Generalized hypotonia; Encephalopathy; Severe muscular hypotonia; Severe global developmental delay; Epileptic encephalopathy 2019-03-30 criteria provided, single submitter clinical testing This variant was classified as: Likely benign. The following ACMG criteria were applied in classifying this variant: BS1,BP3. This variant was detected in heterozygous state.

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