ClinVar Miner

Submissions for variant NM_021942.6(TRAPPC11):c.270G>C (p.Leu90=)

gnomAD frequency: 0.00766  dbSNP: rs60142264
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000540618 SCV000654287 benign Autosomal recessive limb-girdle muscular dystrophy type R18 2025-01-23 criteria provided, single submitter clinical testing
GeneDx RCV001546278 SCV001765772 likely benign not provided 2021-02-01 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001662591 SCV001880644 benign not specified 2020-09-16 criteria provided, single submitter clinical testing

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