ClinVar Miner

Submissions for variant NM_002150.3(HPD):c.1005C>G (p.Ile335Met) (rs137852868)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000001642 SCV000376743 likely benign Tyrosinemia type 3 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. 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 RCV000386406 SCV000376744 likely benign Hawkinsinuria 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. 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.
Invitae RCV000953322 SCV001099887 benign Hawkinsinuria; Tyrosinemia type 3 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000386406 SCV001138848 uncertain significance Hawkinsinuria 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001091863 SCV001248117 pathogenic not provided 2016-12-01 criteria provided, single submitter clinical testing
OMIM RCV000001642 SCV000021798 pathogenic Tyrosinemia type 3 2000-06-01 no assertion criteria provided literature only

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