Submissions for variant NM_024312.5(GNPTAB):c.1042A>C (p.Ile348Leu) (rs7958709)

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Total submissions: 8

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics,PreventionGenetics	RCV000250304	SCV000314274	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000344025	SCV000375435	likely benign	Pseudo-Hurler polydystrophy	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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina	RCV000032285	SCV000375436	likely benign	Mucolipidosis type II	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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics	RCV000437039	SCV000511822	likely benign	not provided	2017-01-24	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Invitae	RCV001079378	SCV001122615	benign	Mucolipidosis type II; Pseudo-Hurler polydystrophy	2019-12-31	criteria provided, single submitter	clinical testing
Mendelics	RCV000032285	SCV001138795	likely benign	Mucolipidosis type II	2019-05-28	criteria provided, single submitter	clinical testing
GeneReviews	RCV000032285	SCV000055928	pathologic	Mucolipidosis type II	2012-05-10	no assertion criteria provided	curation	Converted during submission to Pathogenic.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic	RCV000437039	SCV000800956	benign	not provided	2017-09-27	no assertion criteria provided	clinical testing

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