ClinVar Miner

Submissions for variant NM_212550.4(BLOC1S3):c.144C>A (p.Arg48=) (rs182286598)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000308138 SCV000413526 likely benign Hermansky-Pudlak syndrome 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000217225 SCV000268804 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Arg48Arg 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 1.4% (108/7706) of European American chromosomes from a broad population by the NHLBI Exome Sequenc ing Project (; dbSNP rs182286598).
PreventionGenetics RCV000217225 SCV000317275 benign not specified criteria provided, single submitter clinical testing

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