ClinVar Miner

Submissions for variant NM_001848.2(COL6A1):c.996C>T (p.Gly332=) (rs11702055)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725117 SCV000334228 uncertain significance not provided 2017-10-10 criteria provided, single submitter clinical testing
Invitae RCV001087678 SCV000657088 likely benign Bethlem myopathy 1 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000725117 SCV000680650 uncertain significance not provided 2017-12-08 criteria provided, single submitter clinical testing The c.996 C>T variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.996 C>T variant is observed in 18/23704 (0.1%) alleles from individuals of Latino background, in large population cohorts (Lek et al., 2016). Several splice prediction algorithms are inconsistent in their predictions as to whether or not the c.996C>T alteration damages the natural donor site in intron 13 or introduces a cryptic donor site in exon 13. However, in the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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