ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.6052G>T (p.Ala2018Ser)

gnomAD frequency: 0.00001  dbSNP: rs886044278
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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) RCV000314023 SCV000344224 uncertain significance not provided 2016-07-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494888 SCV002778710 uncertain significance Alagille syndrome due to a NOTCH2 point mutation; Hajdu-Cheney syndrome 2021-10-29 criteria provided, single submitter clinical testing

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