ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.4692T>G (p.Asp1564Glu)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003871208 SCV004680874 benign not provided 2023-12-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV004369623 SCV004926770 uncertain significance Inborn genetic diseases 2023-11-28 criteria provided, single submitter clinical testing The c.4692T>G (p.D1564E) alteration is located in exon 63 (coding exon 63) of the COL11A1 gene. This alteration results from a T to G substitution at nucleotide position 4692, causing the aspartic acid (D) at amino acid position 1564 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV003871208 SCV005331404 uncertain significance not provided 2024-08-01 criteria provided, single submitter clinical testing COL11A1: PM2, BP4

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