ClinVar Miner

Submissions for variant NM_000159.4(GCDH):c.852+223C>T (rs11085825)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000828563 SCV000970257 benign not provided 2018-06-14 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.
Mendelics RCV000207433 SCV001140995 benign Glutaric aciduria, type 1 2019-05-28 criteria provided, single submitter clinical testing
National Institute of Mental Health and Neurosciences RCV000207433 SCV000262701 likely pathogenic Glutaric aciduria, type 1 2015-12-08 no assertion criteria provided research
Reproductive Health Research and Development,BGI Genomics RCV000207433 SCV001142484 benign Glutaric aciduria, type 1 2020-01-06 no assertion criteria provided curation NG_009292.1(NM_000159.3):c.852+223C>T in the gene GCDH has an allele frequency of 0.361 in Latino subpopulation in the gnomAD database. A total of 1525 homozygous occurrences are observed in the gnomAD database. Benign computational verdict because 1 benign prediction from DANN. This evidence suggests the variant to be classified as benign. ACMG/AMP criteria applied: BA1, BS2, BP4.
Natera, Inc. RCV000207433 SCV001460066 benign Glutaric aciduria, type 1 2020-05-31 no assertion criteria provided clinical testing

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