ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.846C>T (p.Tyr282=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003442446 SCV004170042 uncertain significance not provided 2023-05-12 criteria provided, single submitter clinical testing In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV005030033 SCV005657626 uncertain significance Alagille syndrome due to a NOTCH2 point mutation; Hajdu-Cheney syndrome 2024-05-14 criteria provided, single submitter clinical testing

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