ClinVar Miner

Submissions for variant NM_000195.5(HPS1):c.1409C>T (p.Ala470Val)

gnomAD frequency: 0.00012  dbSNP: rs768146409
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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 RCV001487238 SCV001691723 likely benign not provided 2023-09-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506563 SCV002811408 likely benign Hermansky-Pudlak syndrome 1 2021-10-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826319 SCV002077861 likely benign Hermansky-Pudlak syndrome 2021-10-01 no assertion criteria provided clinical testing

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