ClinVar Miner

Submissions for variant NM_024747.6(HPS6):c.1692C>T (p.Pro564=)

gnomAD frequency: 0.00070  dbSNP: rs147449083
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000916179 SCV001061412 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001108742 SCV001266014 benign Hermansky-Pudlak syndrome 6 2017-05-09 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.

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