ClinVar Miner

Submissions for variant NM_000195.5(HPS1):c.1977C>T (p.Thr659=)

gnomAD frequency: 0.00004  dbSNP: rs751349303
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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 RCV001482409 SCV001686778 likely benign not provided 2024-02-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002504394 SCV002805235 likely benign Hermansky-Pudlak syndrome 1 2021-09-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278144 SCV001465140 uncertain significance Hermansky-Pudlak syndrome 2020-04-10 no assertion criteria provided clinical testing

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