ClinVar Miner

Submissions for variant NM_000195.5(HPS1):c.11T>C (p.Val4Ala)

gnomAD frequency: 0.03653  dbSNP: rs58548334
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000150815 SCV000198350 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Val4Ala in exon 3 of HPS1: This variant is not expected to have clinical signifi cance because it has been identified in 6.3% (277/4406) of African American chro mosomes from a broad population by the NHLBI Exome Sequencing Project (http://ev; dbSNP rs58548334).
PreventionGenetics, part of Exact Sciences RCV000150815 SCV000302922 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000340154 SCV000359680 benign Hermansky-Pudlak syndrome 1 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV001518343 SCV001727016 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001518343 SCV001912191 benign not provided 2019-12-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV001831938 SCV002086676 benign Hermansky-Pudlak syndrome 2021-02-26 no assertion criteria provided clinical testing

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