ClinVar Miner

Submissions for variant NM_001540.5(HSPB1):c.498G>A (p.Glu166=) (rs148357753)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000866481 SCV001007585 likely benign not provided 2018-03-22 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001159591 SCV001321313 likely benign Distal hereditary motor neuronopathy type 2B 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV001164524 SCV001326657 likely benign Charcot-Marie-Tooth disease axonal type 2F 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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