ClinVar Miner

Submissions for variant NM_001243177.4(ALDOA):c.274+4C>T

gnomAD frequency: 0.00204  dbSNP: rs200278984
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000598678 SCV000710004 likely benign not provided 2019-11-19 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001083366 SCV001051729 likely benign HNSHA due to aldolase A deficiency 2024-01-29 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001083366 SCV001471480 uncertain significance HNSHA due to aldolase A deficiency 2022-02-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003905561 SCV004726419 likely benign ALDOA-related disorder 2022-12-22 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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