ClinVar Miner

Submissions for variant NM_018249.6(CDK5RAP2):c.412G>A (p.Gly138Ser)

gnomAD frequency: 0.00127  dbSNP: rs61756286
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000512968 SCV000516084 likely benign not provided 2021-01-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000512968 SCV000609348 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing CDK5RAP2: BP4, BS2
Invitae RCV000512968 SCV001044360 likely benign not provided 2024-01-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000709960 SCV001327727 uncertain significance Microcephaly 3, primary, autosomal recessive 2017-06-26 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GenomeConnect, ClinGen RCV000709960 SCV000840322 not provided Microcephaly 3, primary, autosomal recessive no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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