ClinVar Miner

Submissions for variant NM_012064.4(MIP):c.559del (p.Arg187fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV002280025 SCV002568145 likely pathogenic Cataract 15 multiple types 2022-05-26 criteria provided, single submitter clinical testing PVS1 PM2

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