ClinVar Miner

Submissions for variant NM_003664.5(AP3B1):c.1364-18A>G

gnomAD frequency: 0.01617  dbSNP: rs112329411
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ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000252671 SCV000309766 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001515973 SCV001724166 benign Hermansky-Pudlak syndrome 2 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001636778 SCV001852387 benign not provided 2018-12-24 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001636778 SCV005302269 benign not provided criteria provided, single submitter not provided

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