Variants in gene EFHC1 with conflicting interpretations "uncertain significance" and "benign"

Submission 1 (uncertain significance) minimum review status:		Submission 1 (uncertain significance) method:
Submission 2 (benign) minimum review status:		Submission 2 (benign) method:
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_018100.4(EFHC1):c.545G>A (p.Arg182His)	rs3804505	0.05453
NM_018100.4(EFHC1):c.685T>C (p.Phe229Leu)	rs137852776	0.00242
NM_018100.4(EFHC1):c.90G>A (p.Thr30=)	rs140429638	0.00056
NM_018100.4(EFHC1):c.1587G>A (p.Ala529=)	rs377227885	0.00019
NM_018100.4(EFHC1):c.661C>T (p.Arg221Cys)	rs139197513	0.00019
NM_018100.4(EFHC1):c.1057C>T (p.Arg353Trp)	rs527295360	0.00017
NM_018100.4(EFHC1):c.731G>A (p.Arg244Gln)	rs140476054	0.00013
NM_018100.4(EFHC1):c.1058G>A (p.Arg353Gln)	rs377732929	0.00008
NM_018100.4(EFHC1):c.779G>A (p.Arg260Gln)	rs145754721	0.00008
NM_018100.4(EFHC1):c.1812A>C (p.Glu604Asp)	rs369503191	0.00006
NM_018100.4(EFHC1):c.1114C>T (p.Arg372Trp)	rs371151471	0.00003

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.