ClinVar Miner

Submissions for variant NM_022081.6(HPS4):c.*1223_*1238del

dbSNP: rs886057303
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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 RCV000379839 SCV000437615 uncertain significance Hermansky-Pudlak syndrome 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004694665 SCV005195343 uncertain significance not provided criteria provided, single submitter not provided

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