ClinVar Miner

Submissions for variant NM_012388.4(BLOC1S6):c.252A>T (p.Thr84=)

gnomAD frequency: 0.00047  dbSNP: rs114872740
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000915909 SCV001061134 likely benign Hermansky-Pudlak syndrome 9 2024-01-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003950825 SCV004756947 likely benign BLOC1S6-related disorder 2021-02-25 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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