ClinVar Miner

Submissions for variant NM_003659.4(AGPS):c.1536A>T (p.Ala512=)

dbSNP: rs1036071531
Minimum review status: Collection method:
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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 RCV000891453 SCV001035272 likely benign not provided 2024-03-13 criteria provided, single submitter clinical testing
Natera, Inc. RCV001825797 SCV002077926 likely benign Rhizomelic chondrodysplasia punctata type 3 2020-02-26 no assertion criteria provided clinical testing

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