ClinVar Miner

Submissions for variant NM_031372.4(HNRNPDL):c.356C>T (p.Thr119Ile)

gnomAD frequency: 0.01088  dbSNP: rs75779369
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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 RCV000559876 SCV000638839 benign Autosomal dominant limb-girdle muscular dystrophy type 1G 2025-01-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004716540 SCV005300933 benign not provided criteria provided, single submitter not provided

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