ClinVar Miner

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

gnomAD frequency: 0.00235  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
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000625163 SCV000743954 likely benign Hermansky-Pudlak syndrome 9 2017-10-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000625163 SCV000771319 benign Hermansky-Pudlak syndrome 9 2025-01-13 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001700054 SCV001922671 benign not specified no assertion criteria provided 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).

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