ClinVar Miner

Submissions for variant NM_001083961.2(WDR62):c.82C>T (p.Arg28Trp)

gnomAD frequency: 0.00038  dbSNP: rs200283315
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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) RCV000403150 SCV000344973 uncertain significance not provided 2016-09-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000403150 SCV001151792 uncertain significance not provided 2018-03-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV001332798 SCV001525213 uncertain significance Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 2020-12-07 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Mayo Clinic Laboratories, Mayo Clinic RCV000403150 SCV001712984 uncertain significance not provided 2019-05-20 criteria provided, single submitter clinical testing
GeneDx RCV000403150 SCV001738927 uncertain significance not provided 2021-09-13 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV000403150 SCV002297546 likely benign not provided 2023-11-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV004678667 SCV005179899 uncertain significance Inborn genetic diseases 2024-04-19 criteria provided, single submitter clinical testing The c.82C>T (p.R28W) alteration is located in exon 1 (coding exon 1) of the WDR62 gene. This alteration results from a C to T substitution at nucleotide position 82, causing the arginine (R) at amino acid position 28 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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