ClinVar Miner

Submissions for variant NM_181507.2(HPS5):c.719G>C (p.Arg240Pro)

gnomAD frequency: 0.00001  dbSNP: rs764296457
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV000495446 SCV005676183 likely pathogenic Hermansky-Pudlak syndrome 5 2024-04-25 criteria provided, single submitter clinical testing
Laboratoire de Génétique Moléculaire, CHU Bordeaux RCV000495446 SCV000579444 pathogenic Hermansky-Pudlak syndrome 5 2017-03-14 no assertion criteria provided clinical testing

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