ClinVar Miner

Submissions for variant NM_203486.3(DLL3):c.618C>T (p.Pro206=)

gnomAD frequency: 0.00153  dbSNP: rs192624990
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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 RCV000333581 SCV000413160 likely 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV000385715 SCV000413161 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.
GeneDx RCV000910526 SCV000716802 likely benign not provided 2021-05-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000910526 SCV001055396 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000385715 SCV001473107 likely benign Spondylocostal dysostosis 1, autosomal recessive 2019-08-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000910526 SCV005330776 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing DLL3: BP4, BP7, BS1

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