ClinVar Miner

Submissions for variant NM_022081.6(HPS4):c.148C>T (p.Gln50Ter)

dbSNP: rs372020804
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000728955 SCV000856583 likely pathogenic not provided 2017-08-24 criteria provided, single submitter clinical testing
Baylor Genetics RCV003461002 SCV004192356 pathogenic Hermansky-Pudlak syndrome 4 2023-02-22 criteria provided, single submitter clinical testing

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