ClinVar Miner

Submissions for variant NM_000693.4(ALDH1A3):c.1107C>A (p.Ile369=)

gnomAD frequency: 0.00057  dbSNP: rs3803431
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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 RCV000878336 SCV001021224 benign Isolated microphthalmia 8 2024-09-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003975493 SCV004794162 benign ALDH1A3-related disorder 2019-08-09 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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