ClinVar Miner

Submissions for variant NM_024312.5(GNPTAB):c.3598G>A (p.Glu1200Lys) (rs137853825)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000082193 SCV000114139 benign not specified 2013-05-24 criteria provided, single submitter clinical testing
Invitae RCV001084285 SCV001113739 benign Mucolipidosis type II; Pseudo-Hurler polydystrophy 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001110620 SCV001268081 uncertain significance Pseudo-Hurler polydystrophy 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). 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.
Illumina Clinical Services Laboratory,Illumina RCV001110621 SCV001268082 uncertain significance Mucolipidosis type II 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). 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.
SNPedia RCV000058936 SCV000090457 not provided not provided no assertion provided not provided
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000058936 SCV000800944 benign not provided 2017-04-25 no assertion criteria provided clinical testing

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