ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.1718G>A (p.Arg573Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GenomeConnect, ClinGen RCV000844895 SCV000986697 not provided Miyoshi muscular dystrophy 1; Limb-girdle muscular dystrophy, type 2B; Myopathy, distal, with anterior tibial onset no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 10/21/2016 by GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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