ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.6208C>G (p.Pro2070Ala)

gnomAD frequency: 0.00002  dbSNP: rs778611782
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001663455 SCV001879884 uncertain significance not provided 2020-11-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV001827566 SCV002080356 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2021-02-02 no assertion criteria provided clinical testing

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