ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.4394A>G (p.Asn1465Ser)

dbSNP: rs886044112
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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) RCV000372816 SCV000343507 uncertain significance not provided 2016-06-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002480040 SCV002782820 uncertain significance Alagille syndrome due to a NOTCH2 point mutation; Hajdu-Cheney syndrome 2021-09-28 criteria provided, single submitter clinical testing

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