ClinVar Miner

Submissions for variant NM_003659.4(AGPS):c.1713C>T (p.Tyr571=)

gnomAD frequency: 0.00001  dbSNP: rs773126499
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 RCV000944429 SCV001090399 likely benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276321 SCV001462459 uncertain significance Rhizomelic chondrodysplasia punctata type 3 2020-01-24 no assertion criteria provided clinical testing

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