ClinVar Miner

Submissions for variant NM_012309.5(SHANK2):c.4456G>A (p.Val1486Ile)

gnomAD frequency: 0.00004  dbSNP: rs781958792
Minimum review status: Collection method:
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centogene AG - the Rare Disease Company RCV001809270 SCV002059779 uncertain significance Autism, susceptibility to, 17 2018-11-27 criteria provided, single submitter clinical testing

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