ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.2968G>T (p.Asp990Tyr)

gnomAD frequency: 0.00005  dbSNP: rs201996851
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000706135 SCV000835167 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2023-11-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002534455 SCV003738471 uncertain significance Inborn genetic diseases 2022-11-17 criteria provided, single submitter clinical testing The c.2968G>T (p.D990Y) alteration is located in exon 14 (coding exon 13) of the COL12A1 gene. This alteration results from a G to T substitution at nucleotide position 2968, causing the aspartic acid (D) at amino acid position 990 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity Omics RCV003144567 SCV003831216 uncertain significance not provided 2021-10-01 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000706135 SCV002075073 not provided Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 04-08-2021 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
GenomeConnect, ClinGen RCV002508944 SCV002818343 not provided Bethlem myopathy 2; Ullrich congenital muscular dystrophy no assertion provided phenotyping only Variant classified as Uncertain significance and reported on 09-14-2020 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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