ClinVar Miner

Submissions for variant NM_001243177.4(ALDOA):c.1120A>T (p.Asn374Tyr)

gnomAD frequency: 0.00001  dbSNP: rs886051894
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000313021 SCV000396457 uncertain significance HNSHA due to aldolase A deficiency 2016-06-14 criteria provided, single submitter clinical testing

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