ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.6479A>G (p.Tyr2160Cys)

gnomAD frequency: 0.00111  dbSNP: rs35216058
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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) RCV000385522 SCV000340679 benign not specified 2016-03-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002059213 SCV002401912 benign Hajdu-Cheney syndrome 2024-12-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004714633 SCV005281106 benign not provided criteria provided, single submitter not provided

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