ClinVar Miner

Submissions for variant NM_001161403.3(LIMS2):c.799G>A (p.Asp267Asn)

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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 RCV004246652 SCV003760356 uncertain significance not specified 2022-08-26 criteria provided, single submitter clinical testing The c.871G>A (p.D291N) alteration is located in exon 8 (coding exon 8) of the LIMS2 gene. This alteration results from a G to A substitution at nucleotide position 871, causing the aspartic acid (D) at amino acid position 291 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003135275 SCV003814615 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2W 2022-09-01 criteria provided, single submitter clinical testing

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