ClinVar Miner

Submissions for variant NM_173689.7(CRB2):c.1859G>C (p.Cys620Ser)

dbSNP: rs879255250
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001328764 SCV001519959 uncertain significance Ventriculomegaly-cystic kidney disease 2020-09-02 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
OMIM RCV000157654 SCV000207605 pathogenic Focal segmental glomerulosclerosis 9 2015-01-08 no assertion criteria provided literature only

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