ClinVar Miner

Submissions for variant NM_173689.7(CRB2):c.434T>C (p.Met145Thr)

gnomAD frequency: 0.37561  dbSNP: rs1105223
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 RCV001513881 SCV001721578 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001664919 SCV001876313 benign Ventriculomegaly-cystic kidney disease 2021-07-30 criteria provided, single submitter clinical testing
GeneDx RCV001513881 SCV001882512 benign not provided 2018-11-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001513881 SCV005316862 benign not provided criteria provided, single submitter not provided

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