ClinVar Miner

Submissions for variant NM_022081.5(HPS4):c.-660C>T

gnomAD frequency: 0.01443  dbSNP: rs34019374
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000366373 SCV000437689 uncertain significance Hermansky-Pudlak syndrome 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004694671 SCV005195355 uncertain significance not provided criteria provided, single submitter not provided

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