ClinVar Miner

Submissions for variant NM_173689.7(CRB2):c.2076C>T (p.Ser692=)

gnomAD frequency: 0.22218  dbSNP: rs13290763
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001517117 SCV001725545 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001517117 SCV001757758 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001664949 SCV001876320 benign Ventriculomegaly-cystic kidney disease 2021-07-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001517117 SCV005320450 benign not provided criteria provided, single submitter not provided

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