Variants with conflicting interpretations "pathogenic" from ClinGen FBN1 Variant Curation Expert Panel, ClinGen and "uncertain significance" from any submitter

Minimum review status of the submission from ClinGen FBN1 Variant Curation Expert Panel, ClinGen:		Collection method of the submission from ClinGen FBN1 Variant Curation Expert Panel, ClinGen:
Minimum review status of the other submission:		Collection method of the other submission:
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 12

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HGVS	dbSNP	gnomAD frequency
NM_000138.5(FBN1):c.8326C>T (p.Arg2776Ter)	rs137854466	0.00001
NM_000138.4(FBN1):c.8051delinsTT (p.Gly2684fs)	rs1555393824
NM_000138.5(FBN1):c.1556A>G (p.Tyr519Cys)	rs1555400278
NM_000138.5(FBN1):c.3476G>A (p.Cys1159Tyr)	rs1555398524
NM_000138.5(FBN1):c.4330T>A (p.Cys1444Ser)	rs869025406
NM_000138.5(FBN1):c.5073AAG[1] (p.Arg1692del)	rs1555396789
NM_000138.5(FBN1):c.5743C>T (p.Arg1915Cys)	rs1555395826
NM_000138.5(FBN1):c.6453C>T (p.Cys2151=)	rs794728251
NM_000138.5(FBN1):c.6491G>A (p.Cys2164Tyr)	rs1555395189
NM_000138.5(FBN1):c.6662G>A (p.Cys2221Tyr)	rs137854460
NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg)	rs363811
NM_000138.5(FBN1):c.7726C>T (p.Arg2576Cys)	rs147195031

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