Variants with conflicting interpretations "likely pathogenic" from Equipe Genetique des Anomalies du Developpement, Université de Bourgogne and "pathogenic" from GeneDx

Minimum review status of the submission from Equipe Genetique des Anomalies du Developpement, Université de Bourgogne:		Collection method of the submission from Equipe Genetique des Anomalies du Developpement, Université de Bourgogne:
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Show significances as they were submitted (without aggregation into standard terms)
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Total variants with conflicting interpretations: 14

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HGVS	dbSNP	gnomAD frequency
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu)	rs77931234	0.00363
NM_000016.6(ACADM):c.797A>G (p.Asp266Gly)	rs201375579	0.00017
NM_000059.4(BRCA2):c.2612C>A (p.Ser871Ter)	rs397507634	0.00001
NM_001374828.1(ARID1B):c.5636_5639del (p.Glu1879fs)	rs1583513256
NM_001377142.1(PLCB4):c.1924G>A (p.Asp642Asn)	rs1568763104
NM_003042.4(SLC6A1):c.1377C>A (p.Ser459Arg)	rs1064795099
NM_003718.5(CDK13):c.2525A>G (p.Asn842Ser)	rs878853160
NM_006593.4(TBR1):c.1118A>G (p.Gln373Arg)	rs1553510492
NM_006593.4(TBR1):c.1588_1594dup (p.Thr532fs)	rs869312704
NM_015338.6(ASXL1):c.1934dup (p.Gly646fs)	rs750318549
NM_020975.6(RET):c.1879+1G>A	rs1588873476
NM_024757.5(EHMT1):c.1468C>T (p.Arg490Ter)	rs1588553447
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
Single allele

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