Submissions for variant NM_024747.6(HPS6):c.632G>C (p.Gly211Ala)

gnomAD frequency: 0.00183  dbSNP: rs200584437

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000250282	SCV000314397	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000368931	SCV000360064	likely benign	Hermansky-Pudlak syndrome 6	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000950751	SCV001097084	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology	RCV000368931	SCV002569346	benign	Hermansky-Pudlak syndrome 6		criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000368931	SCV002811259	likely benign	Hermansky-Pudlak syndrome 6	2021-08-02	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000950751	SCV005220091	likely benign	not provided		criteria provided, single submitter	not provided