ClinVar Miner

Submissions for variant NM_003664.5(AP3B1):c.2922T>C (p.Asn974=)

gnomAD frequency: 0.00001  dbSNP: rs1256709729
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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 RCV001506343 SCV001711264 likely benign Hermansky-Pudlak syndrome 2 2019-02-23 criteria provided, single submitter clinical testing

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