ClinVar Miner

Submissions for variant NM_000693.4(ALDH1A3):c.1156A>G (p.Met386Val)

gnomAD frequency: 0.11067  dbSNP: rs3803430
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000251319 SCV000305421 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001511882 SCV001719201 benign Isolated microphthalmia 8 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001682985 SCV001902414 benign not provided 2018-08-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001682985 SCV005293688 benign not provided criteria provided, single submitter not provided

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