ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.5033T>A (p.Leu1678Gln)

gnomAD frequency: 0.00002  dbSNP: rs748528655
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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 RCV001563810 SCV001786844 uncertain significance Miyoshi muscular dystrophy 1 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001563811 SCV001786845 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001563812 SCV001786846 uncertain significance Distal myopathy with anterior tibial onset 2021-07-14 criteria provided, single submitter clinical testing

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