ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.144A>G (p.Thr48=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003406732 SCV004124472 likely benign not provided 2022-04-01 criteria provided, single submitter clinical testing NOTCH2: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV003406732 SCV005261585 likely benign not provided criteria provided, single submitter not provided

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