ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.6486C>T (p.Ser2162=)

gnomAD frequency: 0.00018  dbSNP: rs372865598
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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) RCV000592286 SCV000705212 likely benign not specified 2017-01-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002062052 SCV002407214 benign Hajdu-Cheney syndrome 2024-01-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002497266 SCV002812505 likely benign Alagille syndrome due to a NOTCH2 point mutation; Hajdu-Cheney syndrome 2021-11-12 criteria provided, single submitter clinical testing

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