ClinVar Miner

Submissions for variant NM_021942.6(TRAPPC11):c.1208-5C>T

gnomAD frequency: 0.00023  dbSNP: rs185570336
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000874418 SCV001016591 likely benign Autosomal recessive limb-girdle muscular dystrophy type R18 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001310501 SCV001500332 likely benign not provided 2020-09-01 criteria provided, single submitter clinical testing

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