ClinVar Miner

Submissions for variant NM_001017420.3(ESCO2):c.764T>C (p.Phe255Ser)

gnomAD frequency: 0.00262  dbSNP: rs141631911
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000177103 SCV000228927 benign not specified 2015-03-17 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224021 SCV000281116 benign not provided 2015-06-05 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000290777 SCV000473245 likely benign Roberts-SC phocomelia 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.
Invitae RCV000224021 SCV001096004 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000224021 SCV001857372 benign not provided 2018-11-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV000290777 SCV001460455 benign Roberts-SC phocomelia syndrome 2020-09-16 no assertion criteria provided clinical testing

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