ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.2380+19C>T

gnomAD frequency: 0.00053  dbSNP: rs141234995
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000594857 SCV000708460 uncertain significance not provided 2018-03-16 criteria provided, single submitter clinical testing
Baylor Genetics RCV001278236 SCV001524383 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2020-04-12 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001278236 SCV001618274 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2A 2025-01-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278236 SCV001465234 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2020-05-25 no assertion criteria provided clinical testing

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