ClinVar Miner

Submissions for variant NM_020442.6(VARS2):c.2186-10T>C

gnomAD frequency: 0.50613  dbSNP: rs753725
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000420601 SCV000517920 benign not specified 2015-12-22 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000676494 SCV001728803 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002244879 SCV002514434 benign Combined oxidative phosphorylation defect type 20 2021-12-05 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000420601 SCV005091853 benign not specified 2024-07-31 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 90% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy, Progressive Myoclonus Epilepsy and Abnormal Movements and Neurodegeneration with brain iron accumulation. Number of patients: 84. Only high quality variants are reported.
Mayo Clinic Laboratories, Mayo Clinic RCV000676494 SCV000802277 benign not provided 2016-03-02 no assertion criteria provided clinical testing

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