ClinVar Miner

Submissions for variant NM_012464.5(TLL1):c.1747C>T (p.Arg583Cys)

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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 RCV004221148 SCV003724943 uncertain significance not specified 2021-09-17 criteria provided, single submitter clinical testing The c.1747C>T (p.R583C) alteration is located in exon 14 (coding exon 14) of the TLL1 gene. This alteration results from a C to T substitution at nucleotide position 1747, causing the arginine (R) at amino acid position 583 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV004809958 SCV005434390 benign not provided 2024-11-01 criteria provided, single submitter clinical testing TLL1: BS1, BS2

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