ClinVar Miner

Submissions for variant NM_001243177.4(ALDOA):c.702+20A>G

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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 RCV003633367 SCV004513761 likely benign HNSHA due to aldolase A deficiency 2023-06-29 criteria provided, single submitter clinical testing

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