ClinVar Miner

Submissions for variant NM_022089.4(ATP13A2):c.746C>T (p.Ala249Val) (rs145515028)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000761644 SCV000891814 uncertain significance not provided 2019-06-01 criteria provided, single submitter clinical testing
Invitae RCV001079927 SCV001021628 likely benign Kufor-Rakeb syndrome; Spastic paraplegia 78, autosomal recessive 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000709867 SCV001257775 uncertain significance Kufor-Rakeb syndrome 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). 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 RCV000709867 SCV000840203 not provided Kufor-Rakeb syndrome 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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