ClinVar Miner

Submissions for variant NM_021942.6(TRAPPC11):c.2628+10del

dbSNP: rs150593522
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001080996 SCV000654281 likely benign Autosomal recessive limb-girdle muscular dystrophy type R18 2024-01-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000539882 SCV001154330 uncertain significance not provided 2017-07-01 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001701081 SCV001919316 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000539882 SCV001964561 likely benign not provided no assertion criteria provided clinical testing

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