ClinVar Miner

Submissions for variant NM_001243177.4(ALDOA):c.1200C>T (p.Ser400=)

gnomAD frequency: 0.01088  dbSNP: rs77290575
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000402669 SCV000396459 likely benign HNSHA due to aldolase A deficiency 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000417665 SCV000518507 benign not specified 2016-02-03 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.
Invitae RCV000402669 SCV000632339 benign HNSHA due to aldolase A deficiency 2024-01-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000402669 SCV001472590 benign HNSHA due to aldolase A deficiency 2023-11-30 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675912 SCV000801639 likely benign not provided 2015-12-15 no assertion criteria provided clinical testing

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