ClinVar Miner

Submissions for variant NM_012388.4(BLOC1S6):c.*2818ACAA[4]

dbSNP: rs376870196
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000302275 SCV000391467 uncertain significance Hermansky-Pudlak syndrome 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004693217 SCV005193786 uncertain significance not provided criteria provided, single submitter not provided

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