ClinVar Miner

Submissions for variant NM_015897.4(PIAS4):c.954C>T (p.Thr318=)

gnomAD frequency: 0.00229  dbSNP: rs61729791
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000950272 SCV001096567 benign not provided 2018-11-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000950272 SCV004141441 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing PIAS4: BP4, BP7

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