ClinVar Miner

Submissions for variant NM_014314.4(RIGI):c.2400A>C (p.Val800=)

gnomAD frequency: 0.34612  dbSNP: rs3205166
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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 RCV001520480 SCV001729588 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001658221 SCV001876621 benign Singleton-Merten syndrome 2 2021-07-30 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003399306 SCV004122993 benign not specified 2023-11-14 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 52% of patients studied by a panel of primary immunodeficiencies. Number of patients: 50. Only high quality variants are reported.

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