ClinVar Miner

Submissions for variant NM_001080477.4(TENM3):c.1982A>G (p.Glu661Gly)

gnomAD frequency: 0.00002  dbSNP: rs766092012
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostic Laboratory, Beijing Chigene Translational Medicine Research Center RCV001691950 SCV001911504 uncertain significance Microphthalmia, isolated, with coloboma 9 no assertion criteria provided clinical testing

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