ClinVar Miner

Submissions for variant NM_024644.5(RIOX1):c.1587C>G (p.Arg529=)

gnomAD frequency: 0.00255  dbSNP: rs34068039
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000971403 SCV001119051 benign not provided 2018-10-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000971403 SCV004136871 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing RIOX1: BP4, BP7

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