ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.1694G>A (p.Arg565Lys)

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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 RCV002904819 SCV003259965 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-12-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002927212 SCV003564650 uncertain significance Inborn genetic diseases 2021-10-05 criteria provided, single submitter clinical testing The c.1694G>A (p.R565K) alteration is located in exon 10 (coding exon 9) of the COL12A1 gene. This alteration results from a G to A substitution at nucleotide position 1694, causing the arginine (R) at amino acid position 565 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003146675 SCV003833321 uncertain significance not provided 2019-10-29 criteria provided, single submitter clinical testing

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