ClinVar Miner

Submissions for variant NM_001243177.4(ALDOA):c.961+17T>C

dbSNP: rs566755208
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000437993 SCV000533588 likely benign not specified 2016-11-11 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 RCV002525463 SCV003278593 benign HNSHA due to aldolase A deficiency 2022-07-29 criteria provided, single submitter clinical testing

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