ClinVar Miner

Submissions for variant NM_001243177.4(ALDOA):c.309C>T (p.Thr103=)

gnomAD frequency: 0.00001  dbSNP: rs758280973
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001786940 SCV002028940 likely benign not provided 2021-05-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002544304 SCV003486857 likely benign HNSHA due to aldolase A deficiency 2023-11-27 criteria provided, single submitter clinical testing

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