ClinVar Miner

Submissions for variant NM_022081.6(HPS4):c.707-28T>C

gnomAD frequency: 0.83408  dbSNP: rs3213583
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000247054 SCV000313944 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001689914 SCV001907944 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001701911 SCV001933098 benign Hermansky-Pudlak syndrome 4 2021-08-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001689914 SCV005273816 benign not provided criteria provided, single submitter not provided

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