ClinVar Miner

Submissions for variant NM_001243177.4(ALDOA):c.542-16C>A

gnomAD frequency: 0.00797  dbSNP: rs78124282
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000424197 SCV000527189 benign not specified 2016-08-03 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001510971 SCV001718142 benign HNSHA due to aldolase A deficiency 2024-01-27 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001510971 SCV002048480 benign HNSHA due to aldolase A deficiency 2023-10-18 criteria provided, single submitter clinical testing

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