ClinVar Miner

Submissions for variant NM_173689.7(CRB2):c.47_53dup (p.Leu19fs)

dbSNP: rs1588200023
Minimum review status: Collection method:
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV001029921 SCV001192717 likely pathogenic Focal segmental glomerulosclerosis 9 2019-05-16 no assertion criteria provided clinical testing

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