ClinVar Miner

Submissions for variant NM_003659.4(AGPS):c.54C>T (p.Ser18=)

gnomAD frequency: 0.00057  dbSNP: rs774742400
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000924147 SCV001069653 likely benign not provided 2024-09-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276314 SCV001462451 uncertain significance Rhizomelic chondrodysplasia punctata type 3 2020-01-24 no assertion criteria provided clinical testing

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