ClinVar Miner

Submissions for variant NM_012388.4(BLOC1S6):c.210C>T (p.Ala70=)

gnomAD frequency: 0.00002  dbSNP: rs761132701
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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 RCV002113183 SCV002409421 likely benign Hermansky-Pudlak syndrome 9 2024-10-03 criteria provided, single submitter clinical testing

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