ClinVar Miner

Submissions for variant NM_000195.5(HPS1):c.2037G>A (p.Leu679=)

gnomAD frequency: 0.00001  dbSNP: rs773611107
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000983529 SCV001131552 likely benign not provided 2024-07-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001105145 SCV001262068 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. RCV001832297 SCV002083710 likely benign Hermansky-Pudlak syndrome 2020-01-27 no assertion criteria provided clinical testing

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