Variants with conflicting interpretations "likely pathogenic" from ClinGen FBN1 Variant Curation Expert Panel, ClinGen and "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.1468G>T (p.Asp490Tyr)	rs1555400371
NM_000138.5(FBN1):c.3554G>A (p.Gly1185Asp)	rs1555398512
NM_000138.5(FBN1):c.4081T>C (p.Cys1361Arg)	rs1566906506
NM_000138.5(FBN1):c.8378A>G (p.Tyr2793Cys)	rs397515863
NM_000138.5(FBN1):c.8416dup (p.Ile2806fs)	rs1555393538

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