ClinVar Miner

Submissions for variant NM_014314.4(RIGI):c.2317G>A (p.Glu773Lys)

gnomAD frequency: 0.00495  dbSNP: rs144181118
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000513787 SCV000610380 likely benign not provided 2017-08-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000513787 SCV001040630 benign not provided 2025-01-07 criteria provided, single submitter clinical testing

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