ClinVar Miner

Submissions for variant NM_182643.3(DLC1):c.1448T>C (p.Leu483Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004914117 SCV005565328 uncertain significance not specified 2024-06-26 criteria provided, single submitter clinical testing The c.1448T>C (p.L483S) alteration is located in exon 7 (coding exon 6) of the DLC1 gene. This alteration results from a T to C substitution at nucleotide position 1448, causing the leucine (L) at amino acid position 483 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005040842 SCV005677907 uncertain significance Colorectal cancer 2024-06-03 criteria provided, single submitter clinical testing

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