ClinVar Miner

Submissions for variant NM_022081.6(HPS4):c.1015G>A (p.Ala339Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004985963 SCV005598001 likely benign Inborn genetic diseases 2024-07-17 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV005038911 SCV005660996 uncertain significance Hermansky-Pudlak syndrome 4 2024-05-14 criteria provided, single submitter clinical testing

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