ClinVar Miner

Submissions for variant NM_020442.6(VARS2):c.631C>T (p.Arg211Trp)

gnomAD frequency: 0.00001  dbSNP: rs544609783
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001330434 SCV001522114 uncertain significance Combined oxidative phosphorylation defect type 20 2019-12-10 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Mayo Clinic Laboratories, Mayo Clinic RCV002261342 SCV002542160 uncertain significance not provided 2021-09-17 criteria provided, single submitter clinical testing

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