ClinVar Miner

Submissions for variant NM_007373.3(SHOC2):c.-159T>C (rs72819758)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000363754 SCV000360436 likely benign Noonan syndrome-like disorder with loose anagen hair 1 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000151876 SCV000200366 benign not specified 2011-06-07 criteria provided, single submitter clinical testing -159T>C (no amino acid change) in SHOC2 exon 2: The -159T>C variant has not been previously reported in the literature but has been identified in our laboratory in four other probands. This variant is located in the 5'UTR and variants in re gulatory regions could have an effect on transcriptional or translational effici ency. However, only a single recurrent variant in SHOC2 has been proven to be pa thogenic to date.

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