Variants with conflicting interpretations "uncertain significance" from Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics and "likely benign" from Genome Diagnostics Laboratory, University Medical Center Utrecht

Minimum review status of the submission from Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics:		Collection method of the submission from Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics:
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_000156.6(GAMT):c.79T>C (p.Tyr27His)	rs200833152	0.00345
NM_020964.3(EPG5):c.2063T>C (p.Phe688Ser)	rs61978576	0.00295
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met)	rs60986317	0.00282
NM_020312.4(COQ9):c.835G>A (p.Asp279Asn)	rs76508383	0.00282
NM_016373.4(WWOX):c.816G>T (p.Leu272Phe)	rs186745328	0.00280
NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys)	rs117985576	0.00169
NM_001382567.1(STIM1):c.1664C>T (p.Ser555Phe)	rs141215990	0.00163
NM_138694.4(PKHD1):c.6854G>A (p.Gly2285Glu)	rs142526715	0.00145
NM_020435.4(GJC2):c.1234C>T (p.His412Tyr)	rs200334298	0.00096
NM_032119.4(ADGRV1):c.8572A>G (p.Ile2858Val)	rs41308297	0.00088
NM_001605.3(AARS1):c.2185C>T (p.Arg729Trp)	rs138081804	0.00072
NM_001378615.1(CC2D2A):c.1978G>C (p.Val660Leu)	rs16892134

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