ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.6997G>C (p.Ala2333Pro)

gnomAD frequency: 0.00021  dbSNP: rs143506822
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000527149 SCV000636911 likely benign Hajdu-Cheney syndrome 2023-09-27 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000592565 SCV000704461 likely benign not specified 2018-07-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002497114 SCV002806023 likely benign Alagille syndrome due to a NOTCH2 point mutation; Hajdu-Cheney syndrome 2021-10-12 criteria provided, single submitter clinical testing

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