ClinVar Miner

Submissions for variant NM_003590.5(CUL3):c.1030-6T>C

gnomAD frequency: 0.00001  dbSNP: rs368109133
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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 RCV002118735 SCV002441415 likely benign not provided 2024-10-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV003070586 SCV003570186 uncertain significance Inborn genetic diseases 2021-09-29 criteria provided, single submitter clinical testing The c.1030-6T>C intronic alteration consists of a T to C substitution 6 nucleotides before exon 8 of the CUL3 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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