ClinVar Miner

Submissions for variant NM_005154.5(USP8):c.1042G>A (p.Ala348Thr)

gnomAD frequency: 0.02648  dbSNP: rs61733869
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000559198 SCV000629525 benign Hereditary spastic paraplegia 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004715255 SCV005295735 benign not provided criteria provided, single submitter not provided

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