Variants in gene SMAD3 with conflicting interpretations "uncertain significance" and "likely pathogenic"

Submission 1 (uncertain significance) minimum review status:		Submission 1 (uncertain significance) method:
Submission 2 (likely pathogenic) minimum review status:		Submission 2 (likely pathogenic) method:
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 10

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HGVS	dbSNP	gnomAD frequency
NM_005902.4(SMAD3):c.1129G>A (p.Val377Ile)	rs730880216	0.00001
NM_005902.4(SMAD3):c.1091A>G (p.Tyr364Cys)	rs886039177
NM_005902.4(SMAD3):c.110_115del (p.Ser37_Val39delinsIle)	rs863223769
NM_005902.4(SMAD3):c.1187T>A (p.Ile396Asn)	rs1595965957
NM_005902.4(SMAD3):c.221G>A (p.Arg74Gln)	rs1566991387
NM_005902.4(SMAD3):c.269G>A (p.Arg90His)	rs886038803
NM_005902.4(SMAD3):c.346AAG[1] (p.Lys117del)	rs2140294164
NM_005902.4(SMAD3):c.371C>T (p.Pro124Leu)	rs886039050
NM_005902.4(SMAD3):c.533-1G>A	rs1350129614
NM_005902.4(SMAD3):c.607+1G>T	rs1060500771

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