ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.6878A>G (p.Lys2293Arg)

gnomAD frequency: 0.00004  dbSNP: rs1053454286
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001881578 SCV002149008 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2023-07-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV004975777 SCV005555064 uncertain significance Inborn genetic diseases 2024-11-26 criteria provided, single submitter clinical testing The c.6878A>G (p.K2293R) alteration is located in exon 43 (coding exon 42) of the COL12A1 gene. This alteration results from a A to G substitution at nucleotide position 6878, causing the lysine (K) at amino acid position 2293 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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