ClinVar Miner

Submissions for variant NM_032667.6(BSCL2):c.975C>T (p.Ser325=) (rs17850877)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000359811 SCV000372865 likely benign Congenital generalized lipodystrophy type 2 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000267577 SCV000372866 likely benign Distal hereditary motor neuronopathy type 5 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV001078698 SCV001005303 likely benign Charcot-Marie-Tooth disease, type 2 2019-12-31 criteria provided, single submitter clinical testing
Northcott Neuroscience Laboratory, ANZAC Research Institute RCV000143800 SCV000188693 non-pathogenic not provided no assertion criteria provided not provided Converted during submission to Benign.

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