Variants in gene NOTCH3 with conflicting interpretations "uncertain significance" and "pathogenic"

Submission 1 (uncertain significance) minimum review status:		Submission 1 (uncertain significance) method:
Submission 2 (pathogenic) minimum review status:		Submission 2 (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: 20

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HGVS	dbSNP	gnomAD frequency
NM_000435.3(NOTCH3):c.3691C>T (p.Arg1231Cys)	rs201680145	0.00089
NM_000435.3(NOTCH3):c.451C>G (p.Gln151Glu)	rs371491165	0.00005
NM_000435.3(NOTCH3):c.2149C>T (p.Arg717Cys)	rs144163298	0.00004
NM_000435.3(NOTCH3):c.3427C>T (p.Arg1143Cys)	rs60373464	0.00003
NM_000435.3(NOTCH3):c.2182C>T (p.Arg728Cys)	rs1057519101	0.00001
NM_000435.3(NOTCH3):c.3356G>A (p.Cys1119Tyr)	rs1266914122	0.00001
NM_000435.3(NOTCH3):c.1268A>G (p.Tyr423Cys)	rs1555729064
NM_000435.3(NOTCH3):c.1304G>A (p.Cys435Tyr)
NM_000435.3(NOTCH3):c.1364G>A (p.Cys455Tyr)	rs886041513
NM_000435.3(NOTCH3):c.1474A>T (p.Ser492Cys)	rs2046899820
NM_000435.3(NOTCH3):c.1566C>G (p.Cys522Trp)
NM_000435.3(NOTCH3):c.1759C>T (p.Arg587Cys)	rs754554486
NM_000435.3(NOTCH3):c.1871G>A (p.Cys624Tyr)	rs758997426
NM_000435.3(NOTCH3):c.1999G>T (p.Gly667Cys)	rs376046941
NM_000435.3(NOTCH3):c.3064T>A (p.Cys1022Ser)	rs2046833026
NM_000435.3(NOTCH3):c.3206A>G (p.Tyr1069Cys)	rs1438064001
NM_000435.3(NOTCH3):c.328C>T (p.Arg110Cys)	rs775836288
NM_000435.3(NOTCH3):c.3298C>T (p.Arg1100Cys)
NM_000435.3(NOTCH3):c.719G>A (p.Cys240Tyr)	rs1599394351
NM_000435.3(NOTCH3):c.953G>A (p.Cys318Tyr)	rs1568361404

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