ClinVar Miner

Submissions for variant NM_005357.4(LIPE):c.117G>A (p.Ser39=)

gnomAD frequency: 0.00245  dbSNP: rs41275756
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000974653 SCV001122488 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001819143 SCV002065968 likely benign not specified 2017-10-16 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000974653 SCV005208513 likely benign not provided criteria provided, single submitter not provided

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