ClinVar Miner

Submissions for variant NM_001243177.4(ALDOA):c.1201G>A (p.Gly401Ser)

gnomAD frequency: 0.00256  dbSNP: rs138824667
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000314539 SCV000396460 uncertain significance HNSHA due to aldolase A deficiency 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001311443 SCV000520326 likely benign not provided 2019-11-11 criteria provided, single submitter clinical testing
Mendelics RCV000314539 SCV001140087 likely benign HNSHA due to aldolase A deficiency 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001311443 SCV001501612 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing ALDOA: BP4, BS2
Mayo Clinic Laboratories, Mayo Clinic RCV001311443 SCV001716259 uncertain significance not provided 2022-05-11 criteria provided, single submitter clinical testing BS1
Labcorp Genetics (formerly Invitae), Labcorp RCV000314539 SCV001732401 benign HNSHA due to aldolase A deficiency 2024-01-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000314539 SCV003799740 likely benign HNSHA due to aldolase A deficiency 2022-03-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003940251 SCV004749426 likely benign ALDOA-related disorder 2019-12-09 criteria provided, single submitter 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).
GenomeConnect, ClinGen RCV000314539 SCV002075086 not provided HNSHA due to aldolase A deficiency no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 10-14-2017 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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