ClinVar Miner

Submissions for variant NM_001378778.1(MPDZ):c.409_410delinsC (p.Val137fs)

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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 RCV002280246 SCV002568236 likely pathogenic Hydrocephalus, nonsyndromic, autosomal recessive 2 2022-06-19 criteria provided, single submitter clinical testing PVS1, PM2

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