ClinVar Miner

Variants in gene NOTCH2 with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 6
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HGVS dbSNP
NM_024408.4(NOTCH2):c.1567+8C>T rs372367275
NM_024408.4(NOTCH2):c.2196A>C (p.Gly732=) rs782101275
NM_024408.4(NOTCH2):c.3205C>A (p.Arg1069=) rs61752485
NM_024408.4(NOTCH2):c.4740G>A (p.Lys1580=) rs367699419
NM_024408.4(NOTCH2):c.4897G>A (p.Val1633Ile) rs116321057
NM_024408.4(NOTCH2):c.7223T>A (p.Leu2408His) rs35586704

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