ClinVar Miner

Submissions for variant NM_016648.4(LARP7):c.297_303+2del

dbSNP: rs2149262033
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001783594 SCV002017098 pathogenic Microcephalic primordial dwarfism, Alazami type 2019-10-03 criteria provided, single submitter clinical testing
3billion RCV001783594 SCV004013615 uncertain significance Microcephalic primordial dwarfism, Alazami type criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Inframe deletion located in a nonrepeat region: predicted to change the length of the protein and disrupt normal protein function. The variant has been reported to be associated with LARP7 related disorder (ClinVar ID: VCV001323230). However, the evidence of pathogenicity is insufficient at this time. Therefore, this variant is classified as Uncertain significance according to the recommendation of ACMG/AMP guideline.

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