ClinVar Miner

Submissions for variant NM_004766.3(COPB2):c.1237_1238del (p.Lys413fs)

dbSNP: rs2107801839
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV001788996 SCV002030293 uncertain significance COPB2-related disorder 2021-11-30 criteria provided, single submitter clinical testing This individual has been published in PMID: 34450031.
OMIM RCV002246506 SCV002520540 pathogenic Osteoporosis, childhood- or juvenile-onset, with developmental delay 2022-05-24 no assertion criteria provided literature only

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