ClinVar Miner

Submissions for variant NM_001142301.1(TMEM67):c.2522-6del

dbSNP: rs747342409
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Total submissions: 3
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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 RCV000224597 SCV000281521 uncertain significance not provided 2016-01-11 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Eurofins NTD LLC (GA) RCV000729622 SCV000857297 likely benign not specified 2017-10-23 criteria provided, single submitter clinical testing
Invitae RCV001446497 SCV001649544 likely benign Joubert syndrome; Meckel-Gruber syndrome 2020-10-29 criteria provided, single submitter clinical testing

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