ClinVar Miner

Submissions for variant NM_024747.5(HPS6):c.541A>G (p.Thr181Ala) (rs144257610)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000501662 SCV000595182 likely benign not specified 2017-02-20 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001103503 SCV001260269 uncertain significance Hermansky-Pudlak syndrome 6 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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