ClinVar Miner

Submissions for variant NM_001004482.1(OR13C5):c.244C>T (p.Leu82=)

gnomAD frequency: 0.49704  dbSNP: rs80227456
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000455986 SCV000539967 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
Invitae RCV000947193 SCV001093364 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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