ClinVar Miner

Submissions for variant NM_182894.3(VSX2):c.666C>T (p.Tyr222=)

gnomAD frequency: 0.00004  dbSNP: rs373242858
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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 RCV001432796 SCV001635575 likely benign Isolated microphthalmia 2 2024-09-14 criteria provided, single submitter clinical testing

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