ClinVar Miner

Submissions for variant NM_001243177.4(ALDOA):c.1178G>A (p.Cys393Tyr)

dbSNP: rs2151019809
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV001730019 SCV001976765 likely pathogenic HNSHA due to aldolase A deficiency 2021-10-01 criteria provided, single submitter clinical testing PM2, PM3, PP2, PP3, PP5

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