ClinVar Miner

Submissions for variant NM_000195.5(HPS1):c.847G>A (p.Gly283Arg)

dbSNP: rs11592273
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000885947 SCV001029428 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000885947 SCV005227115 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001273033 SCV001455569 likely benign Hermansky-Pudlak syndrome 2020-09-16 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003895429 SCV004708869 likely benign HPS1-related disorder 2023-11-22 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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