ClinVar Miner

Submissions for variant NM_006744.4(RBP4):c.356-25G>C

dbSNP: rs12265684
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001690340 SCV001906642 benign not provided 2021-05-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001796703 SCV002033477 benign Microphthalmia, isolated, with coloboma 10 2021-11-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001796702 SCV002033478 benign Progressive retinal dystrophy due to retinol transport defect 2021-11-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001690340 SCV005323969 benign not provided criteria provided, single submitter not provided

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