ClinVar Miner

Submissions for variant NM_173689.7(CRB2):c.3746G>A (p.Arg1249Gln) (rs147412276)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000897096 SCV001041216 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
OMIM RCV000157658 SCV000207609 pathogenic Focal segmental glomerulosclerosis 9 2015-01-08 no assertion criteria provided literature only
Reproductive Health Research and Development,BGI Genomics RCV000157658 SCV001142403 uncertain significance Focal segmental glomerulosclerosis 9 2020-01-06 no assertion criteria provided curation NM_173689.5:c.3746G>A in the CRB2 gene has an allele frequency of 0.025 in Ashkenazi Jewish subpopulation in the gnomAD database. 4 homozygous occurrences are observed in the gnomAD database. Ebarasi et al. reported a homozygozity in a patient with Steroid-Resistant Nephrotic Syndrome in a consanguineous family (PMID: 25557779). We interpret it as variant of uncertain significance (VUS). ACMG/AMP criteria applied: BS1.

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