ClinVar Miner

Submissions for variant NM_012388.4(BLOC1S6):c.400-8dup

dbSNP: rs373061008
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001522496 SCV001732056 benign Hermansky-Pudlak syndrome 9 2024-01-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264375 SCV002543098 benign Autoinflammatory syndrome 2022-02-12 criteria provided, single submitter clinical testing

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