ClinVar Miner

Submissions for variant NM_001195129.2(PRSS56):c.1213C>T (p.Leu405=)

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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 RCV003642097 SCV004530395 likely benign Isolated microphthalmia 6 2023-02-28 criteria provided, single submitter clinical testing

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