ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.4311C>T (p.Gly1437=)

gnomAD frequency: 0.00733  dbSNP: rs34561092
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000264402 SCV000340027 benign not specified 2016-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000546017 SCV000636904 benign Hajdu-Cheney syndrome 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001589321 SCV001826273 likely benign not provided 2020-09-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502137 SCV002801891 likely benign Alagille syndrome due to a NOTCH2 point mutation; Hajdu-Cheney syndrome 2021-07-21 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001589321 SCV005261574 likely benign not provided criteria provided, single submitter not provided

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