ClinVar Miner

Submissions for variant NM_016955.4(SEPSECS):c.*455C>T

gnomAD frequency: 0.08857  dbSNP: rs73252520
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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 RCV000362191 SCV000449159 likely benign Pontocerebellar hypoplasia type 2D 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.
Breakthrough Genomics, Breakthrough Genomics RCV004710994 SCV005257266 likely benign not provided criteria provided, single submitter not provided

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