ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.7898T>C (p.Val2633Ala)

gnomAD frequency: 0.00111  dbSNP: rs200408101
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000251433 SCV000310284 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000541900 SCV000656196 likely benign Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-01-17 criteria provided, single submitter clinical testing
GeneDx RCV001764233 SCV002008436 uncertain significance not provided 2021-08-04 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Internal segregation studies show this variant has been inherited from reportedly unaffected parents; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Reported in ClinVar (ClinVar Variant ID# 259348; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 26582918)
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252066 SCV002523441 likely benign See cases 2020-01-03 criteria provided, single submitter clinical testing ACMG classification criteria: BS1, BP4
CeGaT Center for Human Genetics Tuebingen RCV001764233 SCV004159754 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing COL12A1: BP4

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