ClinVar Miner

Submissions for variant NM_031372.4(HNRNPDL):c.324_341del (p.Arg109_Ala114del)

dbSNP: rs760683509
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001208293 SCV001379672 likely benign Autosomal dominant limb-girdle muscular dystrophy type 1G 2024-08-09 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001208293 SCV003808724 uncertain significance Autosomal dominant limb-girdle muscular dystrophy type 1G 2020-03-17 criteria provided, single submitter clinical testing
Mendelics RCV001208293 SCV005911641 likely benign Autosomal dominant limb-girdle muscular dystrophy type 1G 2025-04-11 criteria provided, single submitter clinical testing Variant NM_031372.4(HNRNPDL):c.324_341del (p.Arg109_Ala114del) has frequecy in Mendelics internal databases as well as in GnomAD v4.1.0 database (0.00004214 with 68 alleles).

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