ClinVar Miner

Submissions for variant NM_001243177.4(ALDOA):c.1160del (p.Leu387fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003486367 SCV004239009 uncertain significance HNSHA due to aldolase A deficiency 2023-06-21 criteria provided, single submitter clinical testing

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