ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.1663G>A (p.Val555Ile)

gnomAD frequency: 0.00048  dbSNP: rs138172448
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000546918 SCV000645476 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2A 2024-11-27 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000734564 SCV000862716 uncertain significance not provided 2018-08-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002483453 SCV002780972 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A; Muscular dystrophy, limb-girdle, autosomal dominant 4 2021-07-16 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000734564 SCV003828917 uncertain significance not provided 2022-10-13 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000734564 SCV005193732 uncertain significance not provided criteria provided, single submitter not provided
Natera, Inc. RCV000546918 SCV001454343 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2020-09-16 no assertion criteria provided clinical testing

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