ClinVar Miner

Submissions for variant NM_012309.5(SHANK2):c.*3245T>C

gnomAD frequency: 0.01218  dbSNP: rs78378706
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000391963 SCV000373839 uncertain significance Autism spectrum disorder 2016-06-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004693056 SCV005190426 uncertain significance not provided criteria provided, single submitter not provided

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