ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.1842G>C (p.Glu614Asp)

gnomAD frequency: 0.00029  dbSNP: rs201607149
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000339965 SCV000339559 uncertain significance not provided 2016-02-23 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000408139 SCV000391028 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000311434 SCV000391029 uncertain significance Limb-girdle muscular dystrophy, recessive 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000408139 SCV001021826 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2A 2024-01-31 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000339965 SCV003828980 uncertain significance not provided 2023-11-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV000408139 SCV001456364 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2A 2020-09-16 no assertion criteria provided clinical testing

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