ClinVar Miner

Submissions for variant NM_003664.5(AP3B1):c.3163T>C (p.Leu1055=)

dbSNP: rs748447113
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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 RCV001426213 SCV001628862 likely benign Hermansky-Pudlak syndrome 2 2019-03-26 criteria provided, single submitter clinical testing

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