ClinVar Miner

Submissions for variant NM_003664.5(AP3B1):c.1614T>C (p.Asn538=)

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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 RCV002898646 SCV003235887 likely benign Hermansky-Pudlak syndrome 2 2022-09-15 criteria provided, single submitter clinical testing

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