ClinVar Miner

Submissions for variant NM_001243177.4(ALDOA):c.189C>T (p.Thr63=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002942776 SCV003271971 likely benign HNSHA due to aldolase A deficiency 2024-05-01 criteria provided, single submitter clinical testing

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