ClinVar Miner

Submissions for variant NM_024747.5(HPS6):c.632G>C (p.Gly211Ala) (rs200584437)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000250282 SCV000314397 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000368931 SCV000360064 likely benign 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV000950751 SCV001097084 benign not provided 2020-12-04 criteria provided, single submitter clinical testing

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