ClinVar Miner

Submissions for variant NM_001243177.4(ALDOA):c.1162-18A>T

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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 RCV002848400 SCV003235540 likely benign HNSHA due to aldolase A deficiency 2022-09-14 criteria provided, single submitter clinical testing

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