ClinVar Miner

Submissions for variant NM_001129820.2(SLFN14):c.515T>C (p.Val172Ala)

gnomAD frequency: 0.00329  dbSNP: rs139678049
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000954161 SCV001100775 benign not provided 2018-10-16 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818990 SCV002071978 benign not specified 2020-02-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000954161 SCV004144459 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing SLFN14: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000954161 SCV005246864 benign not provided criteria provided, single submitter not provided

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