ClinVar Miner

Submissions for variant NM_002941.4(ROBO1):c.4800T>G (p.Asp1600Glu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002953063 SCV003273401 benign not provided 2023-11-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004545444 SCV004783893 uncertain significance ROBO1-related disorder 2024-01-18 no assertion criteria provided clinical testing The ROBO1 c.4800T>G variant is predicted to result in the amino acid substitution p.Asp1600Glu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.23% of alleles in individuals of Latino descent in gnomAD, including one homozygous individual. However, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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