ClinVar Miner

Submissions for variant NM_014314.4(RIGI):c.1740T>A (p.Asp580Glu)

gnomAD frequency: 0.10366  dbSNP: rs17217280
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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 RCV001518096 SCV001726737 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001658211 SCV001876623 benign Singleton-Merten syndrome 2 2021-07-30 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003487371 SCV004232798 benign not specified 2024-01-24 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 23% of patients studied by a panel of primary immunodeficiencies. Number of patients: 22. Only high quality variants are reported.

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