ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.5591T>A (p.Leu1864Gln)

dbSNP: rs768704227
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001563951 SCV001787016 uncertain significance Miyoshi muscular dystrophy 1 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001563952 SCV001787017 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001563953 SCV001787018 uncertain significance Distal myopathy with anterior tibial onset 2021-07-14 criteria provided, single submitter clinical testing

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