ClinVar Miner

Submissions for variant NM_152415.3(VPS37A):c.556C>A (p.His186Asn)

gnomAD frequency: 0.00001  dbSNP: rs774817335
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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 RCV001848277 SCV002105988 uncertain significance Hereditary spastic paraplegia 2020-01-14 criteria provided, single submitter clinical testing

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