ClinVar Miner

Submissions for variant NM_001031689.3(PLAA):c.2350del (p.Lys783_Val784insTer)

dbSNP: rs1587143858
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology RCV000855728 SCV000998752 likely pathogenic Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies 2019-09-20 criteria provided, single submitter clinical testing

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