ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.3913G>A (p.Val1305Ile)

gnomAD frequency: 0.00017  dbSNP: rs587688280
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000994086 SCV001147401 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing NOTCH2: BP4
Invitae RCV002068718 SCV002491260 likely benign Hajdu-Cheney syndrome 2024-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV003160125 SCV003864005 likely benign Inborn genetic diseases 2023-01-31 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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