ClinVar Miner

Submissions for variant NM_012309.5(SHANK2):c.*591C>A

gnomAD frequency: 0.00009  dbSNP: rs879971097
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000334143 SCV000373846 uncertain significance Autism spectrum disorder 2016-06-14 criteria provided, single submitter clinical testing

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