ClinVar Miner

Submissions for variant NM_024301.5(FKRP):c.561C>G (p.Ala187=)

dbSNP: rs771770302
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001395840 SCV001597557 likely benign Walker-Warburg congenital muscular dystrophy 2023-10-06 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832147 SCV002088960 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2I 2020-09-25 no assertion criteria provided clinical testing

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