ClinVar Miner

Submissions for variant NM_001394998.1(TANC2):c.4370G>A (p.Arg1457Lys)

gnomAD frequency: 0.00001  dbSNP: rs770714662
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003140858 SCV003818928 uncertain significance Intellectual developmental disorder with autistic features and language delay, with or without seizures 2022-06-27 criteria provided, single submitter clinical testing

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