ClinVar Miner

Submissions for variant NM_001848.3(COL6A1):c.2464+9C>T

gnomAD frequency: 0.00008  dbSNP: rs368651226
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725770 SCV000339286 uncertain significance not provided 2018-02-15 criteria provided, single submitter clinical testing
GeneDx RCV000278479 SCV000529651 likely benign not specified 2016-08-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000528678 SCV000657031 likely benign Bethlem myopathy 1A 2024-09-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004543073 SCV004765972 likely benign not specified 2023-08-30 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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