ClinVar Miner

Submissions for variant NM_012388.4(BLOC1S6):c.34G>A (p.Ala12Thr)

gnomAD frequency: 0.00306  dbSNP: rs145762743
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000504443 SCV000593649 likely benign not specified 2015-11-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000649490 SCV000771318 benign Hermansky-Pudlak syndrome 9 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003392328 SCV004129783 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing BLOC1S6: BP4, BS1
Breakthrough Genomics, Breakthrough Genomics RCV003392328 SCV005212628 likely benign not provided criteria provided, single submitter not provided

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.