ClinVar Miner

Submissions for variant NM_016630.7(SPG21):c.153del (p.Val52fs)

dbSNP: rs2140441397
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001783794 SCV002023623 likely pathogenic Mast syndrome 2021-06-05 criteria provided, single submitter clinical testing
Center for Rare Movement Disorders Innsbruck, Medical University Innsbruck RCV001783794 SCV002029082 pathogenic Mast syndrome no assertion criteria provided clinical testing
OMIM RCV001783794 SCV003924097 pathogenic Mast syndrome 2023-05-11 no assertion criteria provided literature only

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