ClinVar Miner

Submissions for variant NM_000693.4(ALDH1A3):c.327G>A (p.Arg109=)

gnomAD frequency: 0.00156  dbSNP: rs146169888
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000951666 SCV001098085 benign Isolated microphthalmia 8 2024-08-09 criteria provided, single submitter clinical testing

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