ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.1896G>A (p.Lys632=)

dbSNP: rs746786954
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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 RCV001275585 SCV001695642 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2A 2018-10-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275585 SCV001460843 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2020-01-24 no assertion criteria provided clinical testing

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