ClinVar Miner

Submissions for variant NM_032383.5(HPS3):c.1692-192T>G

gnomAD frequency: 0.70831  dbSNP: rs772903
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001543868 SCV001762753 benign Hermansky-Pudlak syndrome 3 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001595102 SCV001828500 benign not provided 2018-07-09 criteria provided, single submitter clinical testing

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