ClinVar Miner

Submissions for variant NM_021222.3(PRUNE1):c.933G>A (p.Thr311=)

gnomAD frequency: 0.00002  dbSNP: rs747498357
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV001255965 SCV001432740 uncertain significance Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies 2019-10-11 criteria provided, single submitter clinical testing The affected proband is homozygous for the variant. Two unaffected siblings were also tested. One sibling is heterozygous for the variant and one sibling is negative for the variant.
Ambry Genetics RCV001267412 SCV001445593 uncertain significance Inborn genetic diseases 2019-09-20 criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV001255965 SCV004805699 uncertain significance Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies 2024-03-29 criteria provided, single submitter clinical testing

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