ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.2752+8T>C

dbSNP: rs587621243
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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) RCV000731930 SCV000859801 uncertain significance not provided 2018-02-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002535245 SCV003514093 benign Hajdu-Cheney syndrome 2024-01-31 criteria provided, single submitter clinical testing

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