ClinVar Miner

Submissions for variant NM_000382.3(ALDH3A2):c.1179G>A (p.Thr393=)

gnomAD frequency: 0.00006  dbSNP: rs372428552
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 RCV000930992 SCV001076653 likely benign not provided 2024-02-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826950 SCV002093188 likely benign Sjögren-Larsson syndrome 2020-11-02 no assertion criteria provided clinical testing

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