ClinVar Miner

Submissions for variant NM_001082971.2(DDC):c.96C>T (p.Asp32=)

gnomAD frequency: 0.00319  dbSNP: rs11575290
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000309532 SCV000469607 benign Deficiency of aromatic-L-amino-acid decarboxylase 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000309532 SCV000745181 likely benign Deficiency of aromatic-L-amino-acid decarboxylase 2017-06-28 criteria provided, single submitter clinical testing
Invitae RCV000309532 SCV001105830 benign Deficiency of aromatic-L-amino-acid decarboxylase 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001706597 SCV001912553 benign not provided 2021-04-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001706597 SCV004162127 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing DDC: BP4, BP7, BS2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000309532 SCV000734557 likely benign Deficiency of aromatic-L-amino-acid decarboxylase no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001700009 SCV001918376 benign not specified no assertion criteria provided clinical testing

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