ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.6124A>G (p.Met2042Val)

gnomAD frequency: 0.00001  dbSNP: rs1244625283
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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) RCV000734818 SCV000862990 uncertain significance not provided 2018-08-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005029402 SCV005650901 uncertain significance Alagille syndrome due to a NOTCH2 point mutation; Hajdu-Cheney syndrome 2024-06-12 criteria provided, single submitter clinical testing

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