ClinVar Miner

Submissions for variant NM_018848.3(MKKS):c.1474G>A (p.Asp492Asn) (rs142327258)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000513875 SCV000113905 uncertain significance not provided 2013-09-10 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000513875 SCV000609952 uncertain significance not provided 2017-05-01 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765483 SCV000896778 uncertain significance McKusick-Kaufman syndrome; Bardet-Biedl syndrome 6 2018-10-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001139907 SCV001300106 uncertain significance Bardet-Biedl syndrome 6 2017-04-28 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.
Illumina Clinical Services Laboratory,Illumina RCV001139908 SCV001300107 uncertain significance McKusick-Kaufman syndrome 2017-04-28 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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