ClinVar Miner

Submissions for variant NM_181507.2(HPS5):c.345G>A (p.Met115Ile) (rs149229493)

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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 RCV000179036 SCV000231226 likely benign not specified 2015-05-08 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000179036 SCV000270270 likely benign not specified 2015-08-06 criteria provided, single submitter clinical testing p.Met115Ile in exon 5 of HPS5: This variant is not expected to have clinical sig nificance because it has been identified in 0.4% of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs1492 29493).
Illumina Clinical Services Laboratory,Illumina RCV000266867 SCV000369637 likely benign Hermansky-Pudlak syndrome 5 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Invitae RCV000971923 SCV001119602 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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