ClinVar Miner

Variants with conflicting interpretations "pathogenic" from GeneDx and "likely pathogenic" from Service de Génétique Moléculaire, Hôpital Robert Debré

Minimum review status of the submission from GeneDx: Collection method of the submission from GeneDx:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 7
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HGVS dbSNP gnomAD frequency
NM_001356.5(DDX3X):c.454dup (p.Ser152fs)
NM_004187.5(KDM5C):c.3392_3393del (p.Glu1131fs)
NM_004380.3(CREBBP):c.6241C>T (p.Gln2081Ter) rs886041518
NM_006009.4(TUBA1A):c.1168C>T (p.Arg390Cys) rs1064793286
NM_013275.6(ANKRD11):c.3369_3372del (p.Ser1123fs)
NM_013275.6(ANKRD11):c.3770_3771del (p.Lys1257fs) rs886039477
NM_016628.5(WAC):c.451C>T (p.Arg151Ter) rs886041614

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