ClinVar Miner

Submissions for variant NM_032383.5(HPS3):c.957C>G (p.Pro319=)

gnomAD frequency: 0.00004  dbSNP: rs751233801
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000978176 SCV001126102 likely benign not provided 2024-01-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279650 SCV001466763 likely benign Hermansky-Pudlak syndrome 2020-09-28 no assertion criteria provided clinical testing

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