ClinVar Miner

Submissions for variant NM_000382.3(ALDH3A2):c.386-6A>G

dbSNP: rs117330764
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000361094 SCV000401250 likely benign Sjögren-Larsson syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV000676611 SCV001727953 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000676611 SCV001940441 benign not provided 2021-05-25 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 17971613, 31388754)
Mayo Clinic Laboratories, Mayo Clinic RCV000676611 SCV000802402 benign not provided 2016-02-24 no assertion criteria provided clinical testing

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