ClinVar Miner

Submissions for variant NM_012388.4(BLOC1S6):c.144A>T (p.Ala48=)

gnomAD frequency: 0.00001  dbSNP: rs372182517
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000880296 SCV001023380 likely benign Hermansky-Pudlak syndrome 9 2024-10-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004705866 SCV005212629 likely benign not provided criteria provided, single submitter not provided

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