ClinVar Miner

Submissions for variant NM_012309.5(SHANK2):c.744+8C>T

gnomAD frequency: 0.00001  dbSNP: rs529300603
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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 RCV000276949 SCV000373862 uncertain significance Autism spectrum disorder 2016-06-14 criteria provided, single submitter clinical testing
Department of Human Genetics, Hannover Medical School RCV003227571 SCV003924082 uncertain significance Autism, susceptibility to, 17 2023-05-12 criteria provided, single submitter clinical testing

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