ClinVar Miner

Submissions for variant NM_001243177.4(ALDOA):c.486+17C>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 RCV002598682 SCV003488546 likely benign HNSHA due to aldolase A deficiency 2023-03-26 criteria provided, single submitter clinical testing

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