ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.719G>C (p.Gly240Ala)

dbSNP: rs1464974590
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001336626 SCV001530056 uncertain significance Hajdu-Cheney syndrome 2018-11-27 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Fulgent Genetics, Fulgent Genetics RCV002499664 SCV002776172 uncertain significance Alagille syndrome due to a NOTCH2 point mutation; Hajdu-Cheney syndrome 2021-12-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003405565 SCV004124464 uncertain significance not provided 2023-01-01 criteria provided, single submitter clinical testing NOTCH2: PM2, PP2, BP4

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