ClinVar Miner

Submissions for variant NM_003919.3(SGCE):c.975G>A (p.Ser325=)

gnomAD frequency: 0.00016  dbSNP: rs145040065
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000296045 SCV000470663 likely benign Myoclonic dystonia 11 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 RCV000296045 SCV000638431 benign Myoclonic dystonia 11 2024-01-24 criteria provided, single submitter clinical testing

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