ClinVar Miner

Submissions for variant NM_000159.4(GCDH):c.*288G>T

gnomAD frequency: 0.33464  dbSNP: rs9384
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000336585 SCV000410876 benign Elevated circulating glutaric acid concentration 2016-06-14 criteria provided, single submitter clinical testing
Mendelics RCV000190519 SCV001141001 benign Glutaric aciduria, type 1 2019-05-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000190519 SCV001737347 benign Glutaric aciduria, type 1 2021-06-10 criteria provided, single submitter clinical testing
GeneDx RCV001541300 SCV001759277 benign not provided 2018-06-23 criteria provided, single submitter clinical testing
National Institute of Mental Health and Neurosciences RCV000190519 SCV000245405 likely pathogenic Glutaric aciduria, type 1 2015-02-28 no assertion criteria provided research
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001356020 SCV001551071 benign not specified no assertion criteria provided clinical testing

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