ClinVar Miner

Submissions for variant NM_014314.4(RIGI):c.2272G>T (p.Glu758Ter)

gnomAD frequency: 0.00043  dbSNP: rs553716308
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 RCV002122705 SCV002402840 benign not provided 2023-11-10 criteria provided, single submitter clinical testing
Mendelics RCV002246678 SCV002519088 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing

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