ClinVar Miner

Submissions for variant NM_001243177.4(ALDOA):c.1002G>A (p.Ala334=)

gnomAD frequency: 0.00005  dbSNP: rs532473202
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000428330 SCV000522607 likely benign not specified 2016-09-07 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 RCV001490996 SCV001695575 likely benign HNSHA due to aldolase A deficiency 2023-09-10 criteria provided, single submitter clinical testing

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