ClinVar Miner

Submissions for variant NM_203486.3(DLL3):c.616C>G (p.Pro206Ala)

dbSNP: rs376905666
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000591976 SCV000708140 likely benign not specified 2017-06-22 criteria provided, single submitter clinical testing
GeneDx RCV001347460 SCV000727215 likely benign not provided 2019-03-07 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001130471 SCV001290047 benign Syndactyly 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina RCV001130472 SCV001290048 likely benign Spondylocostal dysostosis 1, autosomal recessive 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001130472 SCV001473007 likely benign Spondylocostal dysostosis 1, autosomal recessive 2019-10-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001347460 SCV001541722 benign not provided 2024-01-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002532610 SCV003683585 uncertain significance Inborn genetic diseases 2024-04-20 criteria provided, single submitter clinical testing The c.616C>G (p.P206A) alteration is located in exon 4 (coding exon 4) of the DLL3 gene. This alteration results from a C to G substitution at nucleotide position 616, causing the proline (P) at amino acid position 206 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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