ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.1245G>C (p.Leu415=)

gnomAD frequency: 0.97643  dbSNP: rs2471829
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224273 SCV000281358 benign not provided 2016-01-22 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000455500 SCV000540513 benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: MAF
Eurofins Ntd Llc (ga) RCV000455500 SCV000705870 benign not specified 2017-01-24 criteria provided, single submitter clinical testing
Invitae RCV000224273 SCV001732377 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001273367 SCV001754899 benign Autosomal recessive osteopetrosis 1 2021-07-10 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273367 SCV001456350 benign Autosomal recessive osteopetrosis 1 2020-09-16 no assertion criteria provided clinical testing

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