ClinVar Miner

Submissions for variant NM_021222.3(PRUNE1):c.3G>A (p.Met1Ile)

dbSNP: rs1232331611
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomics England Pilot Project, Genomics England RCV001542543 SCV001759980 likely pathogenic Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies no assertion criteria provided clinical testing
Department of Medical Genetics, Tarbiat Modares University RCV001542543 SCV002061319 likely pathogenic Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies no assertion criteria provided clinical testing

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