ClinVar Miner

Submissions for variant NM_020442.6(VARS2):c.2257C>T (p.Leu753Phe)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003139262 SCV003820354 uncertain significance Combined oxidative phosphorylation defect type 20 2023-01-06 criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV003139262 SCV004171296 uncertain significance Combined oxidative phosphorylation defect type 20 criteria provided, single submitter clinical testing

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