ClinVar Miner

Submissions for variant NM_003193.5(TBCE):c.585C>T (p.Ser195=)

gnomAD frequency: 0.00120  dbSNP: rs139440109
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000596850 SCV000701692 uncertain significance not provided 2016-09-29 criteria provided, single submitter clinical testing
Invitae RCV000596850 SCV001059708 benign not provided 2024-01-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001101430 SCV001258035 likely benign Hypoparathyroidism-retardation-dysmorphism syndrome 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.
CeGaT Center for Human Genetics Tuebingen RCV000596850 SCV004126131 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing TBCE: BP4, BP7

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