ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.3908C>G (p.Thr1303Ser)

gnomAD frequency: 0.00001  dbSNP: rs1359085444
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000595027 SCV000708941 uncertain significance not provided 2017-05-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498870 SCV002814651 uncertain significance Alagille syndrome due to a NOTCH2 point mutation; Hajdu-Cheney syndrome 2022-03-18 criteria provided, single submitter clinical testing

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