Variants with conflicting interpretations "pathogenic" from ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories and "uncertain significance" from Department of Pathology and Laboratory Medicine, Sinai Health System

Minimum review status of the submission from ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories:		Collection method of the submission from ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories:
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Show significances as they were submitted (without aggregation into standard terms)
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Total variants with conflicting interpretations: 12

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HGVS	dbSNP	gnomAD frequency
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg)	rs104895094	0.00506
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val)	rs150212784	0.00039
NM_002769.5(PRSS1):c.47C>T (p.Ala16Val)	rs202003805	0.00009
NM_000059.4(BRCA2):c.6275_6276del (p.Leu2092fs)	rs11571658	0.00003
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter)	rs80358785	0.00002
NM_007294.4(BRCA1):c.4689C>G (p.Tyr1563Ter)	rs80357433	0.00001
NM_000038.6(APC):c.2547_2550del (p.Asp849fs)	rs398123118
NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter)	rs63749849
NM_000251.3(MSH2):c.2038C>T (p.Arg680Ter)	rs63749932
NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly)	rs80357382
NM_007294.4(BRCA1):c.427G>T (p.Glu143Ter)	rs80356991
NM_007294.4(BRCA1):c.4524G>A (p.Trp1508Ter)	rs80356885

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