ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Eurofins Ntd Llc (ga) and "uncertain significance" from Labcorp Genetics (formerly Invitae), Labcorp

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:
ClinVar version:
Total variants with conflicting interpretations: 6
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HGVS dbSNP gnomAD frequency
NM_001041.4(SI):c.1730T>G (p.Val577Gly) rs121912615 0.00131
NM_024596.5(MCPH1):c.2145G>A (p.Trp715Ter) rs201599657 0.00013
NM_000444.6(PHEX):c.*231A>G rs946863800 0.00001
NM_006294.5(UQCRB):c.306_309del (p.Arg105fs) rs886043294 0.00001
NM_001319074.4(RAX2):c.344C>A (p.Ser115Ter) rs398124431
Single allele

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