ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.5147G>A (p.Arg1716His)

gnomAD frequency: 0.00006  dbSNP: rs138472236
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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 RCV000532679 SCV000649717 likely benign Qualitative or quantitative defects of dysferlin 2024-11-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV004024174 SCV004861690 uncertain significance Inborn genetic diseases 2023-11-07 criteria provided, single submitter clinical testing The c.5030G>A (p.R1677H) alteration is located in exon 45 (coding exon 45) of the DYSF gene. This alteration results from a G to A substitution at nucleotide position 5030, causing the arginine (R) at amino acid position 1677 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001834797 SCV002082360 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2019-10-28 no assertion criteria provided clinical testing

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