ClinVar Miner

Submissions for variant NM_032383.5(HPS3):c.2364A>G (p.Ala788=)

gnomAD frequency: 0.00034  dbSNP: rs149563235
Minimum review status: Collection method:
Minimum conflict level:
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 RCV000918715 SCV001064034 likely benign not provided 2024-01-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832078 SCV002081517 likely benign Hermansky-Pudlak syndrome 2020-03-13 no assertion criteria provided clinical testing

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