ClinVar Miner

Submissions for variant NM_007373.4(SHOC2):c.1161+42T>C

gnomAD frequency: 0.82744  dbSNP: rs1980869
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000034336 SCV000058317 benign not specified 2013-03-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000034336 SCV000311801 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000680652 SCV000808096 benign not provided 2018-06-16 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.
Genome-Nilou Lab RCV001807007 SCV002055214 benign Noonan syndrome-like disorder with loose anagen hair 1 2021-07-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000680652 SCV005317229 benign not provided criteria provided, single submitter not provided

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