ClinVar Miner

Submissions for variant NM_005154.5(USP8):c.1162A>G (p.Lys388Glu)

gnomAD frequency: 0.00404  dbSNP: rs150568948
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 RCV000633125 SCV000754337 benign Hereditary spastic paraplegia 2024-10-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004716596 SCV005295736 benign not provided criteria provided, single submitter not provided

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