ClinVar Miner

Submissions for variant NM_138361.5(LRSAM1):c.904-4del (rs757987823)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000497549 SCV000590130 uncertain significance not provided 2017-06-07 criteria provided, single submitter clinical testing The c.904-4delG variant in the LRSAM1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant reduces the quality of the splice acceptor site of intron 12, which may cause abnormal gene splicing. The c.904-4delG variant is observed in 3/65330 (0.005%) alleles from individuals of non-Finnish European background in the ExAC dataset (Lek et al., 2016). We interpret c.904-4delG as a variant of uncertain significance.
Molecular Genetics Laboratory,London Health Sciences Centre RCV001174249 SCV001337379 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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