ClinVar Miner

Submissions for variant NM_001082971.2(DDC):c.550G>C (p.Val184Leu)

gnomAD frequency: 0.00011  dbSNP: rs139433641
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001158898 SCV001320568 likely benign Deficiency of aromatic-L-amino-acid decarboxylase 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV001158898 SCV001732833 benign Deficiency of aromatic-L-amino-acid decarboxylase 2024-01-19 criteria provided, single submitter clinical testing

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