ClinVar Miner

Submissions for variant NM_001061.7(TBXAS1):c.1255G>A (p.Glu419Lys)

gnomAD frequency: 0.00014  dbSNP: rs150087656
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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 RCV002083222 SCV002371680 likely benign not provided 2024-05-29 criteria provided, single submitter clinical testing
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas RCV003445018 SCV004171633 uncertain significance Ghosal hematodiaphyseal dysplasia 2023-11-24 no assertion criteria provided clinical testing

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