ClinVar Miner

Submissions for variant NM_000360.4(TH):c.679G>A (p.Glu227Lys)

gnomAD frequency: 0.00017  dbSNP: rs536382000
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664861 SCV000788882 uncertain significance Autosomal recessive DOPA responsive dystonia 2017-01-09 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000761754 SCV000891941 uncertain significance not provided 2018-06-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000664861 SCV000896138 uncertain significance Autosomal recessive DOPA responsive dystonia 2018-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000664861 SCV001006505 benign Autosomal recessive DOPA responsive dystonia 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000664861 SCV001262250 uncertain significance Autosomal recessive DOPA responsive dystonia 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.
Natera, Inc. RCV000664861 SCV001463815 benign Autosomal recessive DOPA responsive dystonia 2020-09-16 no assertion criteria provided clinical testing

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