ClinVar Miner

Submissions for variant NM_012388.4(BLOC1S6):c.82+10A>G

gnomAD frequency: 0.00220  dbSNP: rs370370639
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000625163 SCV000771319 benign Hermansky-Pudlak syndrome 9 2025-01-13 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
PreventionGenetics, part of Exact Sciences RCV003930359 SCV004738257 benign BLOC1S6-related disorder 2022-07-11 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Clinical Genetics, Academic Medical Center RCV001700054 SCV001922671 benign not specified no assertion criteria provided clinical testing

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