ClinVar Miner

Submissions for variant NM_001206999.2(CIT):c.1706A>C (p.Asn569Thr)

gnomAD frequency: 0.00040  dbSNP: rs149250142
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 RCV000912143 SCV001057234 likely benign not provided 2024-08-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818838 SCV002068702 uncertain significance not specified 2019-03-05 criteria provided, single submitter clinical testing

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