ClinVar Miner

Submissions for variant NM_000518.5(HBB):c.387T>A (p.Ala129=)

dbSNP: rs1248780802
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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 RCV002542922 SCV003235321 likely benign not provided 2024-01-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279266 SCV001466349 uncertain significance beta Thalassemia 2020-08-13 no assertion criteria provided clinical testing

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