ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.6345C>T (p.Ser2115=)

gnomAD frequency: 0.00001  dbSNP: rs369254585
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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) RCV000731313 SCV000859114 uncertain significance not provided 2018-01-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005092145 SCV005817388 likely benign Hajdu-Cheney syndrome 2024-10-13 criteria provided, single submitter clinical testing

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