Variants with conflicting interpretations "uncertain significance" from ClinGen FBN1 Variant Curation Expert Panel, ClinGen and "likely pathogenic" 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: 5

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HGVS	dbSNP	gnomAD frequency
NM_000138.5(FBN1):c.4405C>T (p.Arg1469Cys)	rs587782946	0.00003
NM_000138.5(FBN1):c.1634G>A (p.Arg545His)	rs193922179	0.00001
NM_000138.5(FBN1):c.188A>G (p.Tyr63Cys)	rs1303389437
NM_000138.5(FBN1):c.3428G>A (p.Gly1143Asp)	rs1163486953
NM_000138.5(FBN1):c.3508C>T (p.Arg1170Cys)	rs1366894709

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