ClinVar Miner

Submissions for variant NM_003937.3(KYNU):c.955+26C>T

gnomAD frequency: 0.98885  dbSNP: rs6430000
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001731086 SCV001981196 benign Hydroxykynureninuria 2021-08-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001731087 SCV001981197 benign Vertebral, cardiac, renal, and limb defects syndrome 2 2021-08-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004709134 SCV005245386 benign not provided criteria provided, single submitter not provided

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