ClinVar Miner

Submissions for variant NM_003850.3(SUCLA2):c.45C>T (p.Thr15=)

gnomAD frequency: 0.00624  dbSNP: rs35899901
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000173312 SCV000171927 benign not specified 2012-11-28 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.
Eurofins Ntd Llc (ga) RCV000173312 SCV000224411 benign not specified 2015-05-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000173312 SCV000309851 benign not specified criteria provided, single submitter clinical testing
Athena Diagnostics RCV000714150 SCV000844832 benign not provided 2018-05-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001086372 SCV001016214 benign Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria 2024-01-20 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001086372 SCV004563004 benign Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria 2023-10-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000714150 SCV005230262 benign not provided criteria provided, single submitter not provided

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