ClinVar Miner

Submissions for variant NM_012309.5(SHANK2):c.5025G>A (p.Thr1675=)

gnomAD frequency: 0.00010  dbSNP: rs147288898
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000897291 SCV001041430 benign not provided 2018-06-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502627 SCV002808893 likely benign Autism, susceptibility to, 17 2022-04-08 criteria provided, single submitter clinical testing

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