ClinVar Miner

Submissions for variant NM_012309.5(SHANK2):c.2593C>T (p.Gln865Ter)

dbSNP: rs2135739220
Minimum review status: Collection method:
Minimum conflict level:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MVZ Martinsried, Medicover Genetics RCV001533143 SCV001748962 pathogenic Autism, susceptibility to, 17 2021-04-23 criteria provided, single submitter clinical testing

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