ClinVar Miner

Submissions for variant NM_000195.5(HPS1):c.1533-5G>C

gnomAD frequency: 0.00016  dbSNP: rs369658421
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000963663 SCV001110832 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001701383 SCV001925151 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000963663 SCV001972691 likely benign not provided no assertion criteria provided clinical testing

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