ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Athena Diagnostics Inc and "uncertain significance" from Eurofins NTD LLC (GA)

Minimum review status of the submission from Athena Diagnostics Inc: Collection method of the submission from Athena Diagnostics Inc:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 8
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HGVS dbSNP gnomAD frequency
NM_005912.3(MC4R):c.380C>T (p.Ser127Leu) rs13447331 0.00008
NM_000083.3(CLCN1):c.1283T>C (p.Phe428Ser) rs774843953 0.00003
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg) rs775453643
NM_000083.3(CLCN1):c.568_569delinsTC (p.Gly190Ser) rs797045032
NM_000334.4(SCN4A):c.3893T>G (p.Phe1298Cys) rs886043595
NM_000530.8(MPZ):c.389A>G (p.Lys130Arg) rs281865127
NM_014946.4(SPAST):c.1496G>A (p.Arg499His) rs878854991
Single allele

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