ClinVar Miner

Submissions for variant NM_182894.3(VSX2):c.866G>A (p.Gly289Asp) (rs199473712)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673950 SCV000799211 uncertain significance Microphthalmia, isolated, with coloboma 3 2018-04-06 criteria provided, single submitter clinical testing
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation RCV000058885 SCV000090406 not provided not provided no assertion provided not provided

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