ClinVar Miner

Submissions for variant NM_001079668.3(NKX2-1):c.646del (p.Leu216fs)

dbSNP: rs1555349214
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623729 SCV000741516 pathogenic Inborn genetic diseases 2016-05-12 criteria provided, single submitter clinical testing
Rare Disease Group, Clinical Genetics, Karolinska Institutet RCV000787358 SCV000926320 likely pathogenic Neurodevelopmental disorder 2019-04-09 criteria provided, single submitter clinical testing
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München RCV003336094 SCV004045803 pathogenic Benign hereditary chorea 2023-01-30 criteria provided, single submitter clinical testing

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