ClinVar Miner

Submissions for variant GRCh37/hg19 22q11.21-11.22(chr22:21029655-22481498)x1

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ISCA site 1 RCV000511898 SCV000586189 uncertain significance See cases 2014-06-03 no assertion criteria provided clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001007171 SCV001166738 pathogenic not provided 2021-03-01 no assertion criteria provided clinical testing This deletion interval is associated with the 22q11.21 distal deletion syndrome, type 1 (LRC22 C-E) (OMIM 611867). The 22q11.2 distal deletion syndrome appears to be a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome, although they share some characteristic features with widely variable expressivity. The common clinical features include prematurity, prenatal and postnatal growth delay, developmental delay, characteristic dysmorphic facial features including smooth philtrum and ear abnormalities, microcephaly, and mild skeletal abnormalities. Cardiac defects are primarily septal defects (Burnside RD, Cytogenet Genome Res. 2015;146(2):89-99. PMID: 26278718). The MAPK1 gene, which is located within the deleted region, may be associated with placental development and low birth weight (Ben-Shachar et al., Am J Hum Genet. 2008 Jan 10; 82(1): 214-221. PMID: 18179902).

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