ClinVar Miner

Submissions for variant NM_003664.5(AP3B1):c.944T>C (p.Val315Ala)

dbSNP: rs1744194194
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini RCV001267741 SCV001424057 uncertain significance Hermansky-Pudlak syndrome 2 2020-05-21 no assertion criteria provided clinical testing

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