ClinVar Miner

Variants with conflicting interpretations "likely benign" from Color Diagnostics, LLC DBA Color Health and "uncertain significance" from Fundacion Hipercolesterolemia Familiar

Minimum review status of the submission from Color Diagnostics, LLC DBA Color Health: Collection method of the submission from Color Diagnostics, LLC DBA Color Health:
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_000527.5(LDLR):c.58G>A (p.Gly20Arg) rs147509697 0.00053
NM_000527.5(LDLR):c.507C>T (p.Asn169=) rs146354103 0.00029
NM_000384.3(APOB):c.12940A>G (p.Ile4314Val)
NM_000527.5(LDLR):c.148G>T (p.Ala50Ser) rs137853960
NM_000527.5(LDLR):c.185C>T (p.Thr62Met)

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