ClinVar Miner

Submissions for variant NM_181507.2(HPS5):c.1501G>A (p.Gly501Arg) (rs143784823)

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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 RCV000374468 SCV000369625 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.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000603229 SCV000711328 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Gly501Arg in exon 12 of HPS5: This variant is not expected to have clinical sign ificance because it has been identified in 4.3% (8/186) of Finnish chromosomes f rom a broad population by the 1000 Genomes Project ( projects/SNP; dbSNP rs143784823).
Invitae RCV000959170 SCV001106061 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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