ClinVar Miner

Variants with conflicting interpretations "likely benign" 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: 20
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HGVS dbSNP gnomAD frequency
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser) rs111033243 0.00083
NM_006662.3(SRCAP):c.8531G>C (p.Gly2844Ala) rs143277114 0.00051
NM_004817.4(TJP2):c.2720T>C (p.Met907Thr) rs149659876 0.00044
NM_001024630.4(RUNX2):c.151C>A (p.Gln51Lys) rs368475300 0.00016
NM_006031.6(PCNT):c.7300C>A (p.Leu2434Ile) rs112633352 0.00009
NM_006662.3(SRCAP):c.4105A>G (p.Thr1369Ala) rs751529827 0.00008
NM_001844.5(COL2A1):c.3961G>A (p.Glu1321Lys) rs748248022 0.00003
NM_004187.5(KDM5C):c.2662C>T (p.Arg888Cys) rs376775932 0.00002
NM_006662.3(SRCAP):c.8035G>A (p.Glu2679Lys) rs765033647 0.00002
NM_001128228.3(TPRN):c.1845AGAGGA[3] (p.Glu620_Glu621dup) rs750560040
NM_001197104.2(KMT2A):c.10580G>A (p.Arg3527Gln) rs147844226
NM_001256789.3(CACNA1F):c.2415AGAGGAAGA[2] (p.Glu812_Glu814del) rs59355923
NM_001256789.3(CACNA1F):c.2415AGAGGAAGA[4] (p.Glu812_Glu814dup) rs59355923
NM_001376256.1(CRYM):c.523_524delinsTT (p.Glu175Leu) rs386789728
NM_002335.4(LRP5):c.34CTG[11] (p.Leu19_Leu20dup) rs72555376
NM_004984.4(KIF5A):c.2957C>G (p.Pro986Arg) rs113247976
NM_006031.6(PCNT):c.5074G>A (p.Val1692Ile) rs113342730
NM_015884.4(MBTPS2):c.348CTCTTCTTCCTCTTCCTC[1] (p.Ser131_Ser136del) rs762761040
NM_022039.4(FBXW4):c.485AGG[8] (p.Glu168dup) rs560966094
Single allele

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