ClinVar Miner

Submissions for variant NM_000382.3(ALDH3A2):c.1032T>C (p.Asn344=)

gnomAD frequency: 0.00001  dbSNP: rs1220711241
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 RCV000982028 SCV001130038 likely benign not provided 2024-01-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832286 SCV002093184 likely benign Sjögren-Larsson syndrome 2021-05-21 no assertion criteria provided clinical testing

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