ClinVar Miner

Submissions for variant NM_000195.5(HPS1):c.1744-5C>T

dbSNP: rs369429846
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001819200 SCV002067083 uncertain significance not specified 2018-05-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002077289 SCV002381732 likely benign not provided 2024-03-11 criteria provided, single submitter clinical testing

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