ClinVar Miner

Submissions for variant NM_181507.2(HPS5):c.139T>C (p.Leu47=)

gnomAD frequency: 0.02127  dbSNP: rs73432728
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Total submissions: 5
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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 RCV000222816 SCV000269152 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Leu47Leu in exon 3 of HPS5: This variant is not expected to have clinical signif icance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 6.9% (302/4398) of Afr ican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs73432728).
Preventiongenetics, part of Exact Sciences RCV000222816 SCV000316727 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000386571 SCV000369642 likely benign Hermansky-Pudlak syndrome 5 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV000962116 SCV001109181 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000962116 SCV001911735 benign not provided 2020-02-03 criteria provided, single submitter clinical testing

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