ClinVar Miner

Submissions for variant NM_003659.4(AGPS):c.57C>T (p.Tyr19=)

gnomAD frequency: 0.00001  dbSNP: rs1346009699
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 RCV002069460 SCV002372684 likely benign not provided 2023-06-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279422 SCV001466517 uncertain significance Rhizomelic chondrodysplasia punctata 2020-07-31 no assertion criteria provided clinical testing

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