ClinVar Miner

Submissions for variant NM_003995.3(NPR2):c.64G>T (p.Ala22Ser) (rs140014632)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000173314 SCV000224413 benign not specified 2015-01-17 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768034 SCV000898861 uncertain significance Acromesomelic dysplasia, Maroteaux type; Epiphyseal chondrodysplasia, miura type; Short stature with nonspecific skeletal abnormalities 2018-10-24 criteria provided, single submitter clinical testing NPR2 NM_003995.3 exon 1 p.Ala22Ser (c.64G>T): This variant has not been reported in the literature and is present in 0.6% (144/23776) of African alleles in the Genome Aggregation Database, including 2 homozygotes (http://gnomad.broadinstitute.org/variant/9-35792469-G-T). This variant is present in ClinVar (Variation ID:193262). Evolutionary conservation and computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Invitae RCV000952311 SCV001098806 likely benign Acromesomelic dysplasia, Maroteaux type; Epiphyseal chondrodysplasia, miura type 2020-11-11 criteria provided, single submitter clinical testing

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