ClinVar Miner

Submissions for variant NM_003718.5(CDK13):c.3458C>T (p.Ser1153Leu)

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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 RCV003737231 SCV004557691 benign not provided 2024-03-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV004968427 SCV005561602 uncertain significance Inborn genetic diseases 2024-11-20 criteria provided, single submitter clinical testing The c.3458C>T (p.S1153L) alteration is located in exon 13 (coding exon 13) of the CDK13 gene. This alteration results from a C to T substitution at nucleotide position 3458, causing the serine (S) at amino acid position 1153 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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