ClinVar Miner

Submissions for variant NM_001166114.2(PNPLA6):c.183G>A (p.Val61=) (rs35732838)

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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 RCV000264716 SCV000415632 likely benign Spastic Paraplegia, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000324046 SCV000483874 likely benign Mucolipidosis type IV 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000464986 SCV000560981 benign Hereditary spastic paraplegia 39 2020-11-21 criteria provided, single submitter clinical testing
GeneDx RCV000601995 SCV000730043 benign not specified 2017-01-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000464986 SCV001290945 benign Hereditary spastic paraplegia 39 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Athena Diagnostics Inc RCV000601995 SCV001475982 benign not specified 2020-01-15 criteria provided, single submitter clinical testing

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