ClinVar Miner

Submissions for variant NM_031372.4(HNRNPDL):c.1097G>C (p.Gly366Ala)

gnomAD frequency: 0.00006  dbSNP: rs200123403
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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 RCV000874590 SCV001016782 likely benign Autosomal dominant limb-girdle muscular dystrophy type 1G 2024-10-18 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000874590 SCV003808736 uncertain significance Autosomal dominant limb-girdle muscular dystrophy type 1G 2023-08-03 criteria provided, single submitter clinical testing

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