ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.2196A>C (p.Gly732=)

gnomAD frequency: 0.00010  dbSNP: rs782101275
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000244994 SCV000314290 likely benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000726704 SCV000702218 uncertain significance not provided 2016-09-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002058328 SCV002322510 likely benign Hajdu-Cheney syndrome 2023-04-09 criteria provided, single submitter clinical testing

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