ClinVar Miner

Submissions for variant NM_012388.4(BLOC1S6):c.198A>G (p.Arg66=)

gnomAD frequency: 0.00002  dbSNP: rs1329457663
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001445189 SCV001648211 likely benign Hermansky-Pudlak syndrome 9 2023-12-26 criteria provided, single submitter clinical testing

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