ClinVar Miner

Submissions for variant NM_000195.5(HPS1):c.636C>T (p.Leu212=) (rs1801287)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000153371 SCV000202857 benign not specified 2014-02-26 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000400304 SCV000359667 benign Hermansky-Pudlak syndrome 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000153371 SCV000205244 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Leu212Leu in exon 7 of HPS1: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. It has been identified in 29.2% (2515/8600) of European American chromosomes from a broad population by the NHLBI Exome Sequenc ing Project (http://evs.gs.washington.edu/EVS; dbSNP rs1801287).
PreventionGenetics RCV000153371 SCV000302938 benign not specified criteria provided, single submitter clinical testing

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