ClinVar Miner

Submissions for variant NM_012309.5(SHANK2):c.483+13C>T

gnomAD frequency: 0.00882  dbSNP: rs117706585
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000379977 SCV000373870 likely benign Autism spectrum disorder 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004703602 SCV005218326 likely benign not provided criteria provided, single submitter not provided

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