ClinVar Miner

Submissions for variant NM_032383.5(HPS3):c.2107-52A>G

gnomAD frequency: 0.17569  dbSNP: rs57943258
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001543870 SCV001762755 benign Hermansky-Pudlak syndrome 3 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001615269 SCV001835204 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001615269 SCV005303164 benign not provided criteria provided, single submitter not provided

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