ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.6999G>A (p.Ala2333=)

gnomAD frequency: 0.00003  dbSNP: rs760004891
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000353065 SCV000345642 uncertain significance not provided 2016-08-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502157 SCV002778571 uncertain significance Alagille syndrome due to a NOTCH2 point mutation; Hajdu-Cheney syndrome 2022-05-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002518153 SCV003476852 likely benign Hajdu-Cheney syndrome 2025-01-01 criteria provided, single submitter clinical testing

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