ClinVar Miner

Submissions for variant NM_001368882.1(COL13A1):c.1880G>A (p.Gly627Glu)

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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 RCV002854947 SCV003622911 uncertain significance Inborn genetic diseases 2022-06-03 criteria provided, single submitter clinical testing The c.1847G>A (p.G616E) alteration is located in exon 34 (coding exon 34) of the COL13A1 gene. This alteration results from a G to A substitution at nucleotide position 1847, causing the glycine (G) at amino acid position 616 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003143550 SCV003833406 uncertain significance Congenital myasthenic syndrome 19 2021-03-11 criteria provided, single submitter clinical testing

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