ClinVar Miner

Submissions for variant NM_000195.5(HPS1):c.1896C>T (p.Ser632=)

gnomAD frequency: 0.00002  dbSNP: rs760508807
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000909080 SCV001053873 likely benign not provided 2023-11-25 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001105148 SCV001262071 uncertain significance Hermansky-Pudlak syndrome 1 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.
Natera, Inc. RCV001832045 SCV002091106 likely benign Hermansky-Pudlak syndrome 2020-02-03 no assertion criteria provided clinical testing

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