ClinVar Miner

Submissions for variant NM_000446.6(PON1):c.-108C>T

gnomAD frequency: 0.36079  dbSNP: rs705379
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001650832 SCV001865386 benign not provided 2021-06-19 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26154629, 11335891, 10669651)
Breakthrough Genomics, Breakthrough Genomics RCV001650832 SCV005266981 benign not provided criteria provided, single submitter not provided
OMIM RCV000133466 SCV000034999 other Enzyme activity finding 2014-08-18 no assertion criteria provided literature only

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