ClinVar Miner

Submissions for variant NM_181507.2(HPS5):c.1511-30G>A

gnomAD frequency: 0.58312  dbSNP: rs2305565
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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 RCV000246082 SCV000316728 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001668614 SCV001886580 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001701919 SCV001933101 benign Hermansky-Pudlak syndrome 5 2021-08-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001668614 SCV005317687 benign not provided criteria provided, single submitter not provided

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