ClinVar Miner

Submissions for variant NM_000693.4(ALDH1A3):c.1134G>A (p.Lys378=)

gnomAD frequency: 0.00101  dbSNP: rs112582857
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000877888 SCV001020697 benign Isolated microphthalmia 8 2023-10-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003389842 SCV004131020 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing ALDH1A3: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV003389842 SCV005293686 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003955764 SCV004774432 likely benign ALDH1A3-related disorder 2023-12-04 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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