Submissions for variant NM_024747.6(HPS6):c.698T>G (p.Leu233Arg)

gnomAD frequency: 0.00592  dbSNP: rs36078476

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000192381	SCV000247575	likely benign	not specified	2015-02-26	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000192381	SCV000314398	likely benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000192381	SCV000339361	benign	not specified	2016-02-03	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000963272	SCV001110420	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001105417	SCV001262381	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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
CeGaT Center for Human Genetics Tuebingen	RCV000963272	SCV005041394	benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	HPS6: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000963272	SCV005220092	likely benign	not provided		criteria provided, single submitter	not provided