ClinVar Miner

Submissions for variant NM_020320.5(RARS2):c.111-19T>G

gnomAD frequency: 0.07559  dbSNP: rs6900057
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248561 SCV000313475 benign not specified criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001543859 SCV001762739 benign Pontocerebellar hypoplasia type 6 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001711825 SCV001945730 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001711825 SCV002469674 benign not provided 2024-02-01 criteria provided, single submitter clinical testing

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