ClinVar Miner

Submissions for variant NM_001243177.4(ALDOA):c.780C>T (p.Thr260=)

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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 RCV002599189 SCV003494996 likely benign HNSHA due to aldolase A deficiency 2024-06-10 criteria provided, single submitter clinical testing

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