ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Revvity Omics, Revvity and "likely pathogenic" from deCODE genetics, Amgen

Minimum review status of the submission from Revvity Omics, Revvity: Collection method of the submission from Revvity Omics, Revvity:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 2
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HGVS dbSNP gnomAD frequency
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter) rs200563280 0.00013
NM_000527.5(LDLR):c.1618G>A (p.Ala540Thr)

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