ClinVar Miner

Submissions for variant NM_021942.6(TRAPPC11):c.2196T>C (p.Asn732=)

gnomAD frequency: 0.00019  dbSNP: rs375844076
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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 RCV000876303 SCV001018861 likely benign Autosomal recessive limb-girdle muscular dystrophy type R18 2023-12-18 criteria provided, single submitter clinical testing
GeneDx RCV001593106 SCV001816477 likely benign not provided 2020-09-03 criteria provided, single submitter clinical testing

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