Variants with conflicting interpretations "pathogenic" from Eurofins NTD LLC (GA) and "uncertain significance" from Quest Diagnostics Nichols Institute San Juan Capistrano

Minimum review status of the submission from Eurofins NTD LLC (GA):		Collection method of the submission from Eurofins NTD LLC (GA):
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: 7

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HGVS	dbSNP	gnomAD frequency
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln)	rs3743930	0.02112
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe)	rs1800111	0.00208
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr)	rs147422190	0.00034
NM_000492.4(CFTR):c.2657+2_2657+3insA	rs397508414	0.00009
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup)	rs367543046
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser)	rs61732874
Single allele

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