ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.1302C>T (p.Asn434=)

gnomAD frequency: 0.00002  dbSNP: rs751429914
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000253878 SCV000301866 likely benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000253878 SCV000334020 likely benign not specified 2016-12-05 criteria provided, single submitter clinical testing
GeneDx RCV000892233 SCV000718917 likely benign not provided 2018-12-13 criteria provided, single submitter clinical testing
Counsyl RCV000669405 SCV000794154 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2017-09-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000669405 SCV001036095 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2A 2024-01-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000892233 SCV001149397 likely benign not provided 2019-03-01 criteria provided, single submitter clinical testing

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