ClinVar Miner

Submissions for variant NM_032383.5(HPS3):c.789A>G (p.Glu263=)

gnomAD frequency: 0.00001  dbSNP: rs927155737
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 RCV001395480 SCV001597193 likely benign not provided 2024-03-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001820093 SCV002070747 uncertain significance not specified 2019-05-15 criteria provided, single submitter clinical testing

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