Submissions for variant NM_212550.5(BLOC1S3):c.270G>A (p.Ala90=)

gnomAD frequency: 0.13313  dbSNP: rs758506

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000150190	SCV000197111	benign	not specified	2013-02-21	criteria provided, single submitter	clinical testing	Ala90Ala in exon 2 of BLOC1S3: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 12.6% (211/1680) of African American chromosomes from a broad population by the NHLBI Exome Sequenc ing Project (http://evs.gs.washington.edu/EVS; dbSNP rs758506).
PreventionGenetics, part of Exact Sciences	RCV000150190	SCV000317276	benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000150190	SCV000343727	benign	not specified	2016-07-11	criteria provided, single submitter	clinical testing
Invitae	RCV001519342	SCV001728195	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001554235	SCV001775466	benign	Hermansky-Pudlak syndrome 8	2021-07-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001519342	SCV001909722	benign	not provided	2018-11-10	criteria provided, single submitter	clinical testing