ClinVar Miner

Submissions for variant NM_021942.6(TRAPPC11):c.1632T>C (p.Asn544=)

gnomAD frequency: 0.00004  dbSNP: rs773582997
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002106689 SCV002436108 likely benign Autosomal recessive limb-girdle muscular dystrophy type R18 2021-09-29 criteria provided, single submitter clinical testing

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