ClinVar Miner

Submissions for variant NM_152415.3(VPS37A):c.398C>G (p.Thr133Ser)

gnomAD frequency: 0.00002  dbSNP: rs757735101
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848275 SCV002105985 uncertain significance Hereditary spastic paraplegia 2019-06-01 criteria provided, single submitter clinical testing

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