ClinVar Miner

Submissions for variant NM_000195.5(HPS1):c.1335+48G>A

gnomAD frequency: 0.09953  dbSNP: rs41317034
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000243900 SCV000302923 benign not specified criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001537972 SCV001754923 benign Hermansky-Pudlak syndrome 1 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001618369 SCV001844084 benign not provided 2019-10-21 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001618369 SCV005318440 benign not provided criteria provided, single submitter not provided

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