ClinVar Miner

Submissions for variant NM_031372.4(HNRNPDL):c.314C>T (p.Thr105Ile)

gnomAD frequency: 0.00008  dbSNP: rs763175161
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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 RCV000535298 SCV000638837 likely benign Autosomal dominant limb-girdle muscular dystrophy type 1G 2025-01-13 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000535298 SCV003808721 uncertain significance Autosomal dominant limb-girdle muscular dystrophy type 1G 2019-07-26 criteria provided, single submitter clinical testing

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