ClinVar Miner

Submissions for variant NM_000435.3(NOTCH3):c.1819C>T (p.Arg607Cys) (rs777751303)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000415985 SCV000614242 pathogenic not provided 2014-04-16 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000415985 SCV000493485 likely pathogenic not provided 2016-07-31 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000763036 SCV000893513 likely pathogenic Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; Lehman syndrome; Infantile myofibromatosis 2 2018-10-31 criteria provided, single submitter clinical testing

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