ClinVar Miner

Submissions for variant NM_173689.7(CRB2):c.315C>A (p.Cys105Ter)

dbSNP: rs149815227
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001953627 SCV002242964 pathogenic not provided 2021-06-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Cys105*) in the CRB2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CRB2 are known to be pathogenic (PMID: 27942854, 30212996). This variant is present in population databases (rs149815227, ExAC 0.002%). This variant has not been reported in the literature in individuals with CRB2-related conditions.
Fulgent Genetics, Fulgent Genetics RCV002484802 SCV002790157 likely pathogenic Ventriculomegaly-cystic kidney disease; Focal segmental glomerulosclerosis 9 2022-03-04 criteria provided, single submitter clinical testing

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