ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.1186G>A (p.Ala396Thr)

gnomAD frequency: 0.00003  dbSNP: rs202175607
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000694923 SCV000823391 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2023-11-15 criteria provided, single submitter clinical testing
Baylor Genetics RCV001331209 SCV001523201 uncertain significance Ullrich congenital muscular dystrophy 2 2020-01-13 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV001556084 SCV001777601 uncertain significance not provided 2023-04-17 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function

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