ClinVar Miner

Submissions for variant NM_001243177.4(ALDOA):c.1068C>T (p.Tyr356=)

gnomAD frequency: 0.00019  dbSNP: rs200761497
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000347885 SCV000396455 uncertain significance HNSHA due to aldolase A deficiency 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000347885 SCV001726559 benign HNSHA due to aldolase A deficiency 2023-11-25 criteria provided, single submitter clinical testing

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