ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.970-7A>G

gnomAD frequency: 0.00003  dbSNP: rs199634070
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000726401 SCV000344401 uncertain significance not provided 2016-08-26 criteria provided, single submitter clinical testing
GeneDx RCV000284270 SCV000531468 likely benign not specified 2018-03-14 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.
Invitae RCV001491331 SCV001695918 likely benign Shprintzen-Goldberg syndrome 2023-10-09 criteria provided, single submitter clinical testing

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