ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Eurofins NTD LLC (GA) and "pathogenic" 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:
ClinVar version:
Total variants with conflicting interpretations: 5
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HGVS dbSNP gnomAD frequency
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_000143.4(FH):c.1020T>A (p.Asn340Lys) rs398123159 0.00001
NM_000038.6(APC):c.1312+3A>G rs863225311
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala) rs193922500
Single allele

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