ClinVar Miner

Submissions for variant NM_182894.3(VSX2):c.1056C>T (p.Leu352=)

dbSNP: rs2139646872
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001465012 SCV001668994 likely benign Isolated microphthalmia 2 2023-12-09 criteria provided, single submitter clinical testing

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