ClinVar Miner

Submissions for variant NM_031307.4(PUS3):c.1303C>T (p.Arg435Ter)

gnomAD frequency: 0.00001  dbSNP: rs774005569
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV000239585 SCV002019569 pathogenic Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome 2021-06-30 criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV000239585 SCV004801216 pathogenic Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome 2024-03-14 criteria provided, single submitter research
OMIM RCV000239585 SCV000297968 pathogenic Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome 2020-11-24 no assertion criteria provided literature only
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000239585 SCV001133032 likely pathogenic Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome 2019-09-26 no assertion criteria provided clinical testing

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