ClinVar Miner

Submissions for variant NM_012388.3(BLOC1S6):c.82+10A>G (rs370370639)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000350435 SCV000391442 uncertain significance Hermansky-Pudlak syndrome 2016-06-14 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000625163 SCV000743954 likely benign Hermansky-Pudlak syndrome 9 2017-10-30 criteria provided, single submitter clinical testing
Invitae RCV000625163 SCV000771319 benign Hermansky-Pudlak syndrome 9 2019-12-31 criteria provided, single submitter clinical testing

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