ClinVar Miner

Submissions for variant NM_003664.5(AP3B1):c.2129G>A (p.Gly710Glu)

dbSNP: rs777032367
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002014393 SCV002300009 uncertain significance Hermansky-Pudlak syndrome 2 2021-09-01 criteria provided, single submitter clinical testing

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