ClinVar Miner

Submissions for variant NM_212550.4(BLOC1S3):c.270G>A (p.Ala90=) (rs758506)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare 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,PreventionGenetics RCV000150190 SCV000317276 benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000150190 SCV000343727 benign not specified 2016-07-11 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000321312 SCV000413529 likely benign Hermansky-Pudlak syndrome 2016-06-14 criteria provided, single submitter clinical testing

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